Holoprosencephaly

General Information (adopted from Orphanet):

Synonyms, Signs: HPE
Number of Symptoms 96
OrphanetNr: 2162
OMIM Id: 142945
142946
147250
157170
236100
605934
609408
609637
610828
610829
612530
614226
ICD-10: Q04.2
UMLs: C0079541
MeSH: D016142
MedDRA: 10056304
Snomed: 30915001

Prevalence, inheritance and age of onset:

Prevalence: 13.4 of 100 000 [Orphanet]
Inheritance: Multifactorial
Not applicable
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Cerebral malformation with epilepsy
 -Rare genetic disease
 -Rare neurologic disease
Disease associated with nonacquired combined pituitary hormone deficiency
 -Rare endocrine disease
 -Rare genetic disease
Midline cerebral malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
2
 (HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
3
 (HPO:0000093) Proteinuria Occasional [Orphanet] 169 / 7739
4
 (HPO:0000079) Abnormality of the urinary system Occasional [Orphanet] 88 / 7739
5
 (HPO:0000126) Hydronephrosis 119 / 7739
6
 (HPO:0000272) Malar flattening Occasional [Orphanet] 277 / 7739
7
 (HPO:0000582) Upslanted palpebral fissure Occasional [Orphanet] 185 / 7739
8
 (HPO:0009804) Reduced number of teeth Frequent [Orphanet] 137 / 7739
9
 (HPO:0000288) Abnormality of the philtrum Very frequent [Orphanet] 54 / 7739
10
 (HPO:0000470) Short neck Occasional [Orphanet] 345 / 7739
11
 (HPO:0009794) Branchial anomaly Occasional [Orphanet] 5 / 7739
12
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
13
 (HPO:0000581) Blepharophimosis Occasional [Orphanet] 197 / 7739
14
 (HPO:0002084) Encephalocele Occasional [Orphanet] 70 / 7739
15
 (HPO:0000256) Macrocephaly Occasional [Orphanet] 298 / 7739
16
 (HPO:0004408) Abnormality of the sense of smell Frequent [Orphanet] 28 / 7739
17
 (HPO:0009914) Cyclopia Frequent [Orphanet] 11 / 7739
18
 (HPO:0000436) Abnormality of the nasal tip Occasional [Orphanet] 18 / 7739
19
 (HPO:0001999) Abnormal facial shape Very frequent [Orphanet] 169 / 7739
20
 (HPO:0002007) Frontal bossing Occasional [Orphanet] 366 / 7739
21
 (HPO:0011800) Midface retrusion 221 / 7739
22
 (HPO:0009924) Aplasia/Hypoplasia involving the nose Occasional [Orphanet] 18 / 7739
23
 (HPO:0001305) Dandy-Walker malformation Occasional [Orphanet] 79 / 7739
24
 (HPO:0000366) Abnormality of the nose 56 / 7739
25
 (HPO:0000664) Synophrys Occasional [Orphanet] 112 / 7739
26
 (HPO:0006315) Single median maxillary incisor Very frequent [Orphanet] 13 / 7739
27
 (HPO:0000153) Abnormality of the mouth Very frequent [Orphanet] 60 / 7739
28
 (HPO:0000574) Thick eyebrow Occasional [Orphanet] 96 / 7739
29
 (HPO:0002553) Highly arched eyebrow Occasional [Orphanet] 92 / 7739
30
 (HPO:0000490) Deeply set eye Occasional [Orphanet] 131 / 7739
31
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
32
 (HPO:0000601) Hypotelorism Frequent [Orphanet] 83 / 7739
33
 (HPO:0000463) Anteverted nares Occasional [Orphanet] 305 / 7739
34
 (HPO:0000457) Depressed nasal ridge Frequent [Orphanet] 85 / 7739
35
 (HPO:0000202) Oral cleft Very frequent [Orphanet] 120 / 7739
36
 (HPO:0000929) Abnormality of the skull Occasional [Orphanet] 53 / 7739
37
 (HPO:0009932) Single naris Occasional [Orphanet] 10 / 7739
38
 (HPO:0000453) Choanal atresia Frequent [Orphanet] 76 / 7739
39
 (HPO:0000204) Cleft upper lip Very frequent [Orphanet] 193 / 7739
40
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
41
 (HPO:0000248) Brachycephaly Occasional [Orphanet] 222 / 7739
42
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Frequent [Orphanet] 142 / 7739
43
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
44
 (HPO:0000612) Iris coloboma Frequent [Orphanet] 116 / 7739
45
 (HPO:0000479) Abnormality of the retina Occasional [Orphanet] 74 / 7739
46
 (HPO:0000488) Retinopathy Occasional [Orphanet] 75 / 7739
47
 (HPO:0009912) Abnormality of the tragus Occasional [Orphanet] 12 / 7739
48
 (HPO:0000356) Abnormality of the outer ear Occasional [Orphanet] 85 / 7739
49
 (HPO:0009738) Abnormality of the antihelix Occasional [Orphanet] 37 / 7739
50
 (HPO:0011442) Abnormality of central motor function Occasional [Orphanet] 76 / 7739
51
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
52
 (HPO:0001332) Dystonia Frequent [Orphanet] 197 / 7739
53
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
54
 (HPO:0004305) Involuntary movements Occasional [Orphanet] 50 / 7739
55
 (HPO:0012639) Abnormality of nervous system morphology Very frequent [Orphanet] 25 / 7739
56
 (HPO:0000819) Diabetes mellitus Frequent [Orphanet] 131 / 7739
57
 (HPO:0000873) Diabetes insipidus Occasional [Orphanet] 34 / 7739
58
 (HPO:0004279) Short palm Occasional [Orphanet] 323 / 7739
59
 (HPO:0001161) Hand polydactyly Occasional [Orphanet] 71 / 7739
60
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
61
 (HPO:0010301) Spinal dysraphism Occasional [Orphanet] 14 / 7739
62
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
63
 (HPO:0003312) Abnormal form of the vertebral bodies Occasional [Orphanet] 172 / 7739
64
 (HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
65
 (HPO:0001539) Omphalocele Occasional [Orphanet] 102 / 7739
66
 (HPO:0001743) Abnormality of the spleen Occasional [Orphanet] 37 / 7739
67
 (HPO:0000775) Abnormality of the diaphragm Occasional [Orphanet] 62 / 7739
68
 (HPO:0002242) Abnormality of the intestine Occasional [Orphanet] 42 / 7739
69
 (HPO:0002577) Abnormality of the stomach Frequent [Orphanet] 84 / 7739
70
 (HPO:0002019) Constipation Occasional [Orphanet] 194 / 7739
71
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
72
 (HPO:0001641) Abnormality of the pulmonary valve Occasional [Orphanet] 27 / 7739
73
 (HPO:0011675) Arrhythmia Occasional [Orphanet] 226 / 7739
74
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] 316 / 7739
75
 (HPO:0012303) Abnormality of the aortic arch Occasional [Orphanet] 57 / 7739
76
 (HPO:0001636) Tetralogy of Fallot Occasional [Orphanet] 104 / 7739
77
 (HPO:0001943) Hypoglycemia Frequent [Orphanet] 131 / 7739
78
 (HPO:0003228) Hypernatremia Occasional [Orphanet] 12 / 7739
79
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Occasional [Orphanet] 79 / 7739
80
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
81
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
82
 (HPO:0001324) Muscle weakness Frequent [Orphanet] 859 / 7739
83
 (HPO:0012806) Proboscis 1 / 7739
84
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
85
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
86
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
87
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
88
 (HPO:0001360) Holoprosencephaly 29 / 7739
89
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
90
 (HPO:0002536) Abnormal cortical gyration Occasional [Orphanet] 72 / 7739
91
 (HPO:0012443) Abnormality of brain morphology Very frequent [Orphanet] 45 / 7739
92
 (HPO:0040075) Hypopituitarism Occasional [Orphanet] 32 / 7739
93
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
94
 (HPO:0001428) Somatic mutation Occasional [Orphanet] 100 / 7739
95
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
96
 (HPO:0003829) Incomplete penetrance 85 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: