Disease #01691 (CPN1D (carboxypeptidase N deficiency (CPN1D)), OMIM:212070)

Official abbreviation	CPN1D
Name	carboxypeptidase N deficiency (CPN1D)
OMIM ID	212070
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	10
Phenotype entries for this disease	8
Associated with 1 gene	CPN1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2019-11-30 13:51:21 +01:00 (CET)

Individuals

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ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
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Algeria
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American Samoa
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Bulgaria
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Cambodia
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Cameroon
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Canada
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Central Europe
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Chile
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China
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Christmas Island
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Cocos (Keeling Islands)
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Colombia
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Comoros
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Congo
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Cook Islands
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Croatia (Hrvatska)
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Cuba
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Gambia
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Germany
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Italy
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Japan
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Jordan
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Kenya
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Kiribati
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Korea
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Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
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Kosovo
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Kuwait
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Laos
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Latvia
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Lesotho
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Liberia
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Libya
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Lithuania
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Malawi
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Malaysia
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Mali
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Panama
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Paraguay
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Peru
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Poland
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Polynesia, French
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Portugal
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Puerto Rico
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Qatar
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Reunion
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Romania
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Russia
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Russian Federation
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Rwanda
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Saint Lucia
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Saint Vincent and The Grenadines
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Samoa
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San Marino
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Sao Tome and Principe
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Saudi Arabia
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Scotland
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Senegal
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Serbia
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Seychelles
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Sierra Leone
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Singapore
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Slovakia (Slovak Republic)
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Slovenia
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Solomon Islands
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South Africa
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Southern Territories, French
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Soviet Union (former)
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Spain
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Sri Lanka
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St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
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Sudan
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Sudan, South
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Suriname
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Svalbard and Jan Mayen Islands
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Swaziland
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Sweden
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Switzerland
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Syria
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Taiwan
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Tajikistan
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Tanzania
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Thailand
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Togo
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Tokelau
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Tonga
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Trinidad and Tobago
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Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
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Turks and Caicos Islands
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Tuvalu
(Tuvalu)
Uganda
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Ukraine
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United Arab Emirates
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United Kingdom (Great Britain)
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United States
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Uruguay
(Uruguay)
US Minor Outlying Islands
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Uzbekistan
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Vanuatu
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Vatican City State (Holy See)
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Venezuela
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Viet Nam
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Virgin Islands (British)
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Virgin Islands (US)
(Virgin Islands (US))
Wales
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Wallis and Futuna Islands
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Western Sahara
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Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

How to query this table

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Operator	Column type	Example	Matches
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space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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10 entries on 1 page. Showing entries 1 - 10.

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How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00269572	Patient	PubMed: Cao 2003, PubMed: Mathews 1980	2-generation family, 1 affected	M	-	United States	-	-	-	-	-	CPN1D	see paper; ..., angioedema occurring once weekly, attacks lasted 24h and most often involved face and tongue, but sometimes large regions of pruritic red swellings on trunk or limbs	CPN1	CPN1	3	1	Johan den Dunnen
00361851	-	-	-	-	-	-	-	-	-	-	-	CPN1D	no record of a clinical phenotype for the proband carrying c.759+1G>A variant	CPN1	CPN1	1	1	Christian Drouet
00361942	-	-	-	-	-	-	-	-	-	-	-	CPN1D	no information on the proband clinical phenotype	CPN1	CPN1	1	1	Christian Drouet
00361943	-	-	-	-	-	-	-	-	-	-	-	CPN1D	no record of a clinical phenotype for the c.1150_1154dup variant	CPN1	CPN1	1	1	Christian Drouet
00361986	-	-	-	-	-	France	-	-	-	-	-	CPN1D	Proband presenting with a clinical phenotype of CPN deficiency, i.e. association of angioedema and chronic urticaria	CPN1	-	-	1	Christian Drouet
00361992	-	-	-	-	-	France	-	-	-	-	-	CPN1D	Proband presenting with a CPN deficiency clinical phenotype, i.e. association of chronic urticaria and angioedema	CPN1	CPN1, XPNPEP2	3	1	Christian Drouet
00362269	-	Journal: Vincent 2024	One French family with 3 compound heterozygous carriers in cis has been shown as presenting a Carboxypeptidase N deficiency	F	no	France	-	-	-	-	-	CPN1D	Proband presenting with chronic spontaneous urticaria and angioedema	CPN1	CPN1	1	3	Christian Drouet
00362270	-	Journal: Vincent 2024	A French family with compound heterozygous female proband has been shown as presenting a carboxypeptidase N deficiency with a decreased circulating kallikrein activity.	F	no	France	-	-	-	-	-	CPN1D	Probands presenting with chronic spontaneous urticaria and angioedema	KLKB1	CPN1, KLKB1	2	3	Christian Drouet
00409548	K2106	PubMed: Oishi 2018	-	M	-	Japan	-	-	-	-	-	CPN1D	best corrected visual acuity: 0.8; electroretinogram , rod: severely reduced, cone: severely reduced	CYP4V2	CYP4V2	1	1	LOVD
00464644	-	Journal: Hida 2025	Single family with 3 affected heterozygous carriers	F	no	Japan	-	-	-	-	-	CPN1D	Female proband presenting with a HAE-CPN phenotype	CPN1	CPN1	1	3	Christian Drouet

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Global Variome shared LOVD

FTSJ1 (FtsJ RNA methyltransferase homolog 1 (E. coli))