Disease #00258

Official abbreviation PACA
Name agenesis, pancreatic and cerebellar (PACA)
OMIM ID 609069
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 13
Phenotype entries for this disease 13
Associated with 1 gene PTF1A
Associated tissues -
Disease features -
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Individuals

13 entries on 1 page. Showing entries 1 - 13.
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00017900 - PubMed: Weedon 2014 2-generation family, 3 affecteds (3F), unaffected heterozygous carrier parents/sib, sister of 24212882-Fam1PatII4/6 F yes Syria Syria - 0 - - PACA Born at 36 gestational weeks, Birthweight 1380 g; age onset; Insulin treatment; Exocrine insufficiency; Stool elastase not detectable (<5ug/g); Exocrine insufficiency treatment Pancreatic Enzymes PTF1A PTF1A 1 3 Marianne Vos (LOVD-team)
00017910 - PubMed: Weedon 2014 - F yes Syria Syria - 0 - - PACA Born at 36 gestational weeks; Birth weight 1900g; Age onset 10y; Insulin treatment; Exocrine insufficiency; Stool elastase not detectable (<5ug/g); Exocrine insufficiency treatment Pancreatic Enzymes; PTF1A PTF1A 1 1 Marianne Vos (LOVD-team)
00017911 - PubMed: Weedon 2014 - F yes Syria Syria - 0 - - PACA Full term pregnancy; Birth weight 2146g; Age onset 8y; Insulin treatment; Exocrine insufficiency; Stool elastase not detectable (<5ug/g); Exocrine insufficiency treatment Pancreatic Enzymes; PTF1A PTF1A 1 1 Marianne Vos (LOVD-team)
00017912 - PubMed: Weedon 2014 2-generation family, 2 affected brothers, unaffected parents M yes Lebanon Lebanese - 0 - - PACA Born: 39w; Birth weight: 1750g; Age onset 6m; Insulin treatment; Exocrine insufficiency; PTF1A PTF1A 1 2 Marianne Vos (LOVD-team)
00017913 - PubMed: Weedon 2014 2-generation family, 2 affecteds (father/son), unaffected heterozygous carrier parents, son of 24212882Fam3PatII3 M yes ? (unknown) Kurdish - 0 - - PACA Born at 39w; Birth weight: 1890g; Age onset:1d; Insulin treatment; Exocrine insufficiency; Low stool elastase (27.4ug/g); Exocrine insufficiency treatment Pancreatic Enzymes; PTF1A PTF1A 1 2 Marianne Vos (LOVD-team)
00017914 - PubMed: Weedon 2014 father M yes ? (unknown) Kurdish - 0 - - PACA Age onset 22y; Insulin treatment; Exocrine insufficiency; Low stool elastase (30ug/g) PTF1A PTF1A 1 1 Marianne Vos (LOVD-team)
00017915 - PubMed: Weedon 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey Turkish - 0 - - PACA Born at 36w; Birth weight 1500g; Age onset 4w; Insulin treatment; Exocrine insufficiency; Steatorrhoea; Exocrine insufficiency treatment Pancreatic Enzymes; Mild developmental delay PTF1A PTF1A 1 1 Marianne Vos (LOVD-team)
00017916 - PubMed: Weedon 2014 2-generation family, 1 affected, unaffected parents F yes Turkey Turkish - 0 - - PACA Born at 35w; Birth Weight 1650g; Age onset 3w; Insulin treatment; Exocrine insufficiency; Fat in stool/ amylase very low; Exocrine insufficiency treatment Pancreatic Enzymes PTF1A PTF1A 1 1 Marianne Vos (LOVD-team)
00017917 - PubMed: Weedon 2014 2-generation family, 1 affected, unaffected parents F yes Turkey Turkish - 0 - - PACA Born at 38w; 1660g Birth Weight; Age onset at life; Insulin treatment; Exocrine insufficiency; Steatorrhoea; Exocrine insufficiency treatment Pancreatic Enzymes PTF1A PTF1A 1 1 Marianne Vos (LOVD-team)
00017919 - PubMed: Weedon 2014 2-generation family, affected sister/brother, unaffected heterozygous carrier parents/sibs F;M yes ? (unknown) Arabic - 0 - - PACA Born both 39w; Birth weight 7-1 2800g, 7-8 2400g; Age onset 7-1 4w 7-8 3w; Both insulin treatment; Both Stool elastase not detectable (<5ug/g); Both Exocrine insufficiency treatment Pancreatic Enzymes; PTF1A PTF1A 1 1 Marianne Vos (LOVD-team)
00017921 - PubMed: Weedon 2014 2-generation family, 1 affected, unaffected parents F yes Pakistan - - 0 - - PACA age onset 1d; Insulin treatment PTF1A PTF1A 1 1 Marianne Vos (LOVD-team)
00017922 - PubMed: Weedon 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Germany German - 0 - - PACA Born 36w; BW: 1200g; onset 1d; Insulin treatment; Exocrine insufficiency treatment Pancreatic Enzymes; Exocrine insufficiency PTF1A PTF1A 2 1 Marianne Vos (LOVD-team)
00017923 - PubMed: Weedon 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Costa Rica Costa Rican - 0 - - PACA Born 35w; BW: 1500g; Age onset 1d; Exocrine insufficiency; Insulin treatment; Exocrine insufficiency treatment Pancreatic Enzymes; Fatal cholestatic liver failure PTF1A PTF1A 1 1 Marianne Vos (LOVD-team)
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