Disease #00438 (HPE (holoprosencephaly (HPE)), OMIM:236100)

Official abbreviation HPE
Name holoprosencephaly (HPE)
OMIM ID 236100
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 14
Phenotype entries for this disease 13
Associated with 5 genes GLI2, SHH, SIX3, TGIF1, ZIC2
Associated tissues -
Disease features -
Remarks -


Individuals

14 entries on 1 page. Showing entries 1 - 14.
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00056272 - PubMed: Ming 2002, Journal: Ming 2002 affected girl and clincally unaffected carrier father F - United States - - 0 - - HPE bilateral cleft lip/palate (HP:0002744), semilobar holoprosencephaly (HP:0002507), hypopituitarism (HP:0040075), absent anterior and partly absent posterior interhemispheric fissure, continuity frontal lobe, continuous gyri across midline, midline ventricle with single frontal horn but partial separation posterior horns, partial separation parietal/occipital lobes PTCH1 PTCH1 1 2 Johan den Dunnen
00056275 - PubMed: Ming 2002, Journal: Ming 2002 2-generation family, 2 affected bothers, clinically unaffected carrier father, healthy non-carreir mother/sister M - United States - - 0 - - HPE alobar holoprosencephaly (HP:0006988), hypotelorism (HP:0000601), upward slanting palpebral fissures (HP:0000582) PTCH1 PTCH1 1 3 Johan den Dunnen
00056311 - PubMed: Ming 2002, Journal: Ming 2002 2-generation family, affected sister and brother (mother not carrier, father untested) F - United States - - 0 - - HPE semilobar holoprosencephaly (HP:0002507), absent corpus callosum (HP:0001274), fused thalami (HP:0010664) PTCH1 PTCH1 1 2 Johan den Dunnen
00056312 - PubMed: Ming 2002, Journal: Ming 2002 bother Pat1335 M - United States - - 0 - - HPE single central maxillary incisor, bilateral cleft lip/palate (HP:0002744), developmental delay (HP:0001263) PTCH1 PTCH1 1 1 Johan den Dunnen
00056313 - PubMed: Ming 2002, Journal: Ming 2002 2-generation family, affected girl, normal mother (no carrier), father untested F - United States - - 0 - - HPE holoprosencephaly (HP:0002507), partial agenesis corpus callosum (HP:0001338), panhypopituitarism (HP:0000871), midline cleft lip/palate (HP:0008501), small omphalocele (HP:0001539), mild/moderate developmental delay (HP:0011342) PTCH1 PTCH1 2 1 Johan den Dunnen
00056315 - PubMed: Ming 2002, Journal: Ming 2002 2-generation family, affected girl and clincally unaffected carrier mother F - United States - - 0 - - HPE holoprosencephaly (HP:0002507), seizures (HP:0001250), bilateral cleft lip (HP:0100336) PTCH1 PTCH1 1 2 Johan den Dunnen
00300272 Pt5986 PubMed: Liu 2020, Journal: Liu 2020 - M no France - 00y 0 - - HPE, HTX Left pulmonary isomerism, polysplenia, absent tail of pancreas, abdominal situs inversus, left cleft lip and palate, lobar holoproencephaly SHH SHH 1 1 Patrice Bouvagnet
00335047 175672 - - M ? Turkey - - 0 - - HPE (+) Epicanthus,(+) Abnormality of the forehead,(+) Hypertelorism,(+) Sloping forehead,(+) Long philtrum,(+) Abnormal eyelid morphology,(+) Synophrys,(+) Delayed speech and language development,(+) Global developmental delay,(+) Motor delay,(+) Hoarse voice,(+) Short toe,(+) Disproportionate short stature,(+) Short stature,(+) Short finger,(+) Abnormality of dental structure,(+) Short digit,(+) Cognitive impairment CNOT1 CNOT1 1 1 Andreas Laner
00375635 181708 - prenatal analysis of fet 1 of 2. ? - Germany - - 0 - - HPE (+) Abnormality of prenatal development or birth,(+) Lissencephaly,(+) Holoprosencephaly CNOT1 CNOT1 1 1 Andreas Laner
00391785 131P - - M no Spain - - - - - HPE, HPE3, MCOPCB5 - - SHH 1 1 Alejandro Brea-Fernández
00406737 Fam1Pat1 PubMed: Drissi 2022 4-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F yes Saudi Arabia - - 0 - - HPE see paper; ..., hydrocephalus, holoprosencephaly, no cyclopia, no proboscis, cleft lip, congenital heart disease - PLCH1 1 2 Johan den Dunnen
00406738 Fam2Pat1 PubMed: Drissi 2022 4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives M yes Pakistan - - 0 - - HPE see paper; ..., no hydrocephalus, severe holoprosencephaly, cyclopia, proboscis, cleft lip, congenital heart disease - CDON, DISP1, NODAL, PLCH1, PTCH1 8 2 Johan den Dunnen
00406739 Fam1Pat2 PubMed: Drissi 2022 brother M yes Saudi Arabia - - 0 - - HPE see paper; ..., hydrocephalus, holoprosencephaly, no cyclopia, no proboscis, no cleft lip, no congenital heart disease - PLCH1 1 1 Johan den Dunnen
00406740 Fam2Pat2 PubMed: Drissi 2022 sister M yes Pakistan - - 0 - - HPE see paper; ..., hydrocephalus, severe holoprosencephaly, cyclopia, proboscis, cleft lip, congenital heart disease - CDON, DISP1, NODAL, PLCH1, PTCH1 8 1 Johan den Dunnen
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