Disease #00258

Official abbreviation PACA
Name agenesis, pancreatic and cerebellar (PACA)
OMIM ID 609069
Human Phenotype Ontology Project (HPO) HPO
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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