Holoprosencephaly 7 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Holoprosencephaly 7

MalaCards integrated aliases for Holoprosencephaly 7:

Name: Holoprosencephaly 7 ⁵⁷ ¹¹ ⁷³ ²⁸ ⁵ ⁴³ ¹⁴ ⁷¹

Hpe7 ⁵⁷ ¹¹ ⁷³

Holoprosencephaly-7 ⁷³ ¹²

Holoprosencephaly, Type 7 ³⁸

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
incomplete penetrance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Endocrine diseases Eye diseases

See all MalaCards categories (disease lists)

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Summaries for Holoprosencephaly 7

OMIM®: ⁵⁷ Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002). For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100). (610828) (Updated 08-Dec-2022)

MalaCards based summary: Holoprosencephaly 7, also known as hpe7, is related to basal cell carcinoma, multiple and overgrowth syndrome, and has symptoms including seizures An important gene associated with Holoprosencephaly 7 is PTCH1 (Patched 1), and among its related pathways/superpathways are Signal Transduction and Signaling by Hedgehog. Affiliated tissues include brain, and related phenotypes are depressed nasal tip and agenesis of corpus callosum

UniProtKB/Swiss-Prot: ⁷³ A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability.

Disease Ontology: ¹¹ A holoprosencephaly that has material basis in heterozygous mutation in the PTCH1 gene on chromosome 9q22.

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Related Diseases for Holoprosencephaly 7

Diseases in the Holoprosencephaly family:

Holoprosencephaly 3	Holoprosencephaly 4
Holoprosencephaly 2	Holoprosencephaly 1
Holoprosencephaly 6	Holoprosencephaly 8
Holoprosencephaly 5	Holoprosencephaly 7
Holoprosencephaly 9	Holoprosencephaly 11
Holoprosencephaly 14	Nonsyndromic Holoprosencephaly

Diseases related to Holoprosencephaly 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)

#	Related Disease	Score	Top Affiliating Genes
1	basal cell carcinoma, multiple	10.2	PTCH1 LOC100507346
2	overgrowth syndrome	10.2	PTCH1 LOC100507346
3	holoprosencephaly 1	10.2	ZIC2 SIX3
4	precocious puberty	10.2	PTCH1 LOC100507346
5	corpus callosum lipoma	10.1	ZIC2 SIX3
6	cerebral hemisphere lipoma	10.1	ZIC2 SIX3
7	central nervous system lipoma	10.1	ZIC2 SIX3
8	congenital hydrocephalus	10.1	PTCH1 LOC100507346
9	chromosome 18p deletion syndrome	10.1	ZIC2 SIX3
10	polydactyly, postaxial, type a1	10.1	PTCH1 LOC100507346
11	multiple benign circumferential skin creases on limbs	10.1	ZIC2 SIX3
12	colobomatous microphthalmia	10.0	SIX3 PTCH1 LOC100507346
13	acrocapitofemoral dysplasia	10.0	PTCH1 DHH
14	basal cell carcinoma 1	10.0	SMO PTCH1 LOC100507346
15	holoprosencephaly 6	10.0	ZIC2 SIX3 PTCH1
16	holoprosencephaly 8	10.0	ZIC2 SIX3 DISP1
17	46,xy sex reversal 7	10.0	GLI4 DHH
18	holoprosencephaly 4	10.0	ZIC2 SIX3 DISP1
19	orofaciodigital syndrome viii	10.0	ZIC2 SIX3 DISP1
20	large cell medulloblastoma	9.9	PTCH1 GLI2
21	desmoplastic nodular medulloblastoma	9.9	PTCH1 GLI2
22	diaphragm disease	9.9	DISP1 ALDH1A2
23	coloboma of macula	9.9	ZIC2 SIX3 PTCH1
24	adult medulloblastoma	9.9	PTCH1 GLI2
25	micronodular basal cell carcinoma	9.9	PTCH1 GLI2
26	brachydactyly, type a1	9.9	PTCH1 DHH
27	joubert syndrome 8	9.9	PTCH1 GLI2
28	culler-jones syndrome	9.9	SIX3 GLI2
29	focal dermal hypoplasia	9.8	PTCH1 GLI2
30	holoprosencephaly, recurrent infections, and monocytosis	9.8	SIX3 PTCH1 GLI2
31	vacterl association	9.8	ZIC2 GLI2
32	childhood medulloblastoma	9.7	PTCH1 GLI2
33	greig cephalopolysyndactyly syndrome	9.7	PTCH1 GLI2 DHH
34	infratentorial cancer	9.7	PTCH1 GLI2 DHH
35	holoprosencephaly 11	9.6	ZIC2 SIX3 PTCH1 GLI2
36	patau syndrome	9.6	ZIC2 SIX3 GLI2 DISP1
37	polydactyly	9.6	ZIC2 SIX3 PTCH1 GLI2
38	medulloblastoma	9.6	SMO PTCH1 LOC100507346 GLI2
39	hirschsprung disease 1	9.5	SMO PTCH1 ALDH1A2
40	basal cell carcinoma	9.5	SMO PTCH1 GLI2 DHH
41	lobar holoprosencephaly	9.5	ZIC2 SIX3 PTCH1 GLI2 DISP1
42	midline interhemispheric variant of holoprosencephaly	9.5	ZIC2 SIX3 PTCH1 GLI2 DISP1
43	septopreoptic holoprosencephaly	9.5	ZIC2 SIX3 PTCH1 GLI2 DISP1
44	microform holoprosencephaly	9.5	ZIC2 SIX3 PTCH1 GLI2 DISP1
45	holoprosencephaly 3	9.5	ZIC2 SIX3 PTCH1 GLI2 DISP1
46	solitary median maxillary central incisor	9.4	ZIC2 SIX3 PTCH1 GLI2 DISP1
47	orofacial cleft	9.4	ZIC2 SIX3 PTCH1 GLI2 DISP1
48	septooptic dysplasia	9.4	ZIC2 STAG2 SIX3 GLI2
49	holoprosencephaly 9	9.4	ZIC2 SIX3 GLI4 GLI2 DISP1
50	basal cell nevus syndrome	9.3	SMO PTCH1 LOC100507346 GLI2 DHH

Graphical network of the top 20 diseases related to Holoprosencephaly 7:

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Symptoms & Phenotypes for Holoprosencephaly 7

Human phenotypes related to Holoprosencephaly 7:

³⁰ (show all 30)

#	Description	HPO Frequency	HPO Source Accession
1	depressed nasal tip ³⁰	Occasional (7.5%)	HP:0000437
2	agenesis of corpus callosum ³⁰	Very rare (1%)	HP:0001274
3	hydrocephalus ³⁰	Very rare (1%)	HP:0000238
4	global developmental delay ³⁰	Very rare (1%)	HP:0001263
5	upslanted palpebral fissure ³⁰	Very rare (1%)	HP:0000582
6	hypotelorism ³⁰	Very rare (1%)	HP:0000601
7	omphalocele ³⁰	Very rare (1%)	HP:0001539
8	partial agenesis of the corpus callosum ³⁰	Very rare (1%)	HP:0001338
9	panhypopituitarism ³⁰	Very rare (1%)	HP:0000871
10	median cleft lip and palate ³⁰	Very rare (1%)	HP:0008501
11	bilateral cleft lip and palate ³⁰	Very rare (1%)	HP:0002744
12	fusion of the left and right thalami ³⁰	Very rare (1%)	HP:0010664
13	solitary median maxillary central incisor ³⁰	Very rare (1%)	HP:0006315
14	macrocephaly ³⁰		HP:0000256
15	seizure ³⁰		HP:0001250
16	frontal bossing ³⁰		HP:0002007
17	macrotia ³⁰		HP:0000400
18	short nose ³⁰		HP:0003196
19	iris coloboma ³⁰		HP:0000612
20	flat occiput ³⁰		HP:0005469
21	midface retrusion ³⁰		HP:0011800
22	hypoplasia of the premaxilla ³⁰		HP:0010650
23	midline defect of the nose ³⁰		HP:0004122
24	absent nasal septal cartilage ³⁰		HP:0005273
25	flat nasal alae ³⁰		HP:0010649
26	parietal bossing ³⁰		HP:0000242
27	bilateral microphthalmos ³⁰		HP:0007633
28	broad face ³⁰		HP:0000283
29	semilobar holoprosencephaly ³⁰		HP:0002507
30	alobar holoprosencephaly ³⁰		HP:0006988

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Head And Neck Head:
macrocephaly

Head And Neck Mouth:
cleft palate
cleft lip

Endocrine Features:
panhypopituitarism

Head And Neck Nose:
flattened nasal tip
hypoplastic nose (in 1 patient)
flattened alae

Abdomen External Features:
omphalocele (in 1 patient)

Neurologic Central Nervous System:
agenesis of corpus callosum
hydrocephalus
seizures
developmental delay
holoprosencephaly, semilobar or alobar

Head And Neck Eyes:
hypotelorism
upslanting palpebral fissures

Head And Neck Face:
midface hypoplasia
hypoplastic premaxilla

Head And Neck Teeth:
single central maxillary incisor

Clinical features from OMIM®:

610828 (Updated 08-Dec-2022)

UMLS symptoms related to Holoprosencephaly 7:

seizures

MGI Mouse Phenotypes related to Holoprosencephaly 7:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	10.03	ALDH1A2 DHH DISP1 GLI2 PTCH1 SIX3
2	embryo	MP:0005380	9.97	ALDH1A2 DISP1 GLI2 PTCH1 SIX3 SMO
3	normal	MP:0002873	9.93	ALDH1A2 DISP1 GLI2 PTCH1 SMO ZIC2
4	digestive/alimentary	MP:0005381	9.92	DHH DISP1 GLI2 PTCH1 SIX3 SMO
5	limbs/digits/tail	MP:0005371	9.88	ALDH1A2 DISP1 GLI2 PTCH1 SMO ZIC2
6	craniofacial	MP:0005382	9.8	ALDH1A2 DISP1 GLI2 PTCH1 SIX3 SMO
7	respiratory system	MP:0005388	9.7	ALDH1A2 DISP1 GLI2 PTCH1 SIX3 SMO
8	skeleton	MP:0005390	9.5	ALDH1A2 DISP1 GLI2 PTCH1 SIX3 SMO
9	vision/eye	MP:0005391	9.17	ALDH1A2 DISP1 GLI2 PTCH1 SIX3 SMO

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Drugs & Therapeutics for Holoprosencephaly 7

Search Clinical Trials, NIH Clinical Center for Holoprosencephaly 7

Cochrane evidence based reviews: holoprosencephaly 7

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Genetic Tests for Holoprosencephaly 7

Genetic tests related to Holoprosencephaly 7:

#	Genetic test	Affiliating Genes
1	Holoprosencephaly 7 ²⁸	PTCH1

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Anatomical Context for Holoprosencephaly 7

Organs/tissues related to Holoprosencephaly 7:

MalaCards : Brain

ODiseA: Brain

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Publications for Holoprosencephaly 7

Articles related to Holoprosencephaly 7:

#	Title	Authors	PMID	Year
1	Cerebro-oculo-nasal syndrome: 13 new Brazilian cases. ⁵⁷ ⁵	Guion-Almeida ML...Richieri-Costa A	17985375	2007
2	PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI. ⁵⁷ ⁵	Ribeiro LA...Richieri-Costa A	17001668	2006
3	GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum? ⁵⁷ ⁵	Rahimov F...Murray JC	17096318	2006
4	Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. ⁵⁷ ⁵	Ming JE...Muenke M	11941477	2002
5	PTCH1 duplication in a family with microcephaly and mild developmental delay. ⁶² ⁵⁷	Derwinska K...Stankiewicz P	18830227	2009
6	Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology. ⁵⁷	Cohen MM	2688166	1989
7	Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings. ⁶²	Richieri-Costa A...Ribeiro-Bicudo LA	28496998	2017
8	[Holoprosencephaly with neurogenic hypernatremia]. ⁶²	Cuisset JM...Nuyts JP	9974095	1999
9	The epidemiology of anotia and microtia. ⁶²	Harris J...Robert E	8933331	1996

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Genes for Holoprosencephaly 7

Genes related to Holoprosencephaly 7 (2 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PTCH1	Patched 1	Protein Coding	1338.71	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	11941477 17001668 17985375
2	LOC100507346	Uncharacterized LOC100507346	RNA Gene	400	Pathogenic ⁵	11941477
3	DISP1	Dispatched RND Transporter Family Member 1	Protein Coding	6.58	DISEASES inferred ¹⁴
4	SIX3	SIX Homeobox 3	Protein Coding	5.35	DISEASES inferred ¹⁴
5	ZIC2	Zic Family Member 2	Protein Coding	5.34	DISEASES inferred ¹⁴
6	SMO	Smoothened, Frizzled Class Receptor	Protein Coding	5	DISEASES inferred ¹⁴
7	GLI4	GLI Family Zinc Finger 4	Protein Coding	4.98	DISEASES inferred ¹⁴
8	ALDH1A2	Aldehyde Dehydrogenase 1 Family Member A2	Protein Coding	4.84	DISEASES inferred ¹⁴
9	STAG2	Stromal Antigen 2	Protein Coding	4.78	DISEASES inferred ¹⁴
10	GLI2	GLI Family Zinc Finger 2	Protein Coding	4.74	DISEASES inferred ¹⁴
11	DHH	Desert Hedgehog Signaling Molecule	Protein Coding	4.67	DISEASES inferred ¹⁴

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Variations for Holoprosencephaly 7

ClinVar genetic disease variations for Holoprosencephaly 7:

⁵ (show top 50) (show all 214)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	PTCH1	NM_000264.5(PTCH1):c.2723T>G (p.Val908Gly)	SNV	Pathogenic	8225	rs199476093	GRCh37: 9:98222046-98222046 GRCh38: 9:95459764-95459764
2	PTCH1, LOC100507346	NM_000264.5(PTCH1):c.2479A>G (p.Ser827Gly)	SNV	Pathogenic	8223	rs199476092	GRCh37: 9:98229479-98229479 GRCh38: 9:95467197-95467197
3	PTCH1	NM_000264.5(PTCH1):c.1216-1G>A	SNV	Pathogenic	561094	rs1564051834	GRCh37: 9:98240469-98240469 GRCh38: 9:95478187-95478187
4	PTCH1	NM_000264.5(PTCH1):c.2834delinsAGATGTTGTGGACCC (p.Arg945fs)	INDEL	Likely Pathogenic	430657	rs1554691658	GRCh37: 9:98221935-98221935 GRCh38: 9:95459653-95459653
5	PTCH1	NM_000264.5(PTCH1):c.-122G>A	SNV	Uncertain Significance	912334	rs980754274	GRCh37: 9:98270765-98270765 GRCh38: 9:95508483-95508483
6	PTCH1	NM_000264.5(PTCH1):c.*2180C>T	SNV	Uncertain Significance	912655	rs1357696436	GRCh37: 9:98206495-98206495 GRCh38: 9:95444213-95444213
7	PTCH1	NM_000264.5(PTCH1):c.*2096G>A	SNV	Uncertain Significance	912656	rs1331556943	GRCh37: 9:98206579-98206579 GRCh38: 9:95444297-95444297
8	PTCH1	NM_000264.5(PTCH1):c.*1556T>G	SNV	Uncertain Significance	912697	rs572321616	GRCh37: 9:98207119-98207119 GRCh38: 9:95444837-95444837
9	PTCH1	NM_000264.5(PTCH1):c.*1648A>G	SNV	Uncertain Significance	367641	rs1057515713	GRCh37: 9:98207027-98207027 GRCh38: 9:95444745-95444745
10	PTCH1	NM_000264.5(PTCH1):c.*168C>A	SNV	Uncertain Significance	367662	rs769353632	GRCh37: 9:98208507-98208507 GRCh38: 9:95446225-95446225
11	PTCH1	NM_000264.5(PTCH1):c.*556G>A	SNV	Uncertain Significance	367658	rs964764151	GRCh37: 9:98208119-98208119 GRCh38: 9:95445837-95445837
12	PTCH1	NM_000264.5(PTCH1):c.*1075A>C	SNV	Uncertain Significance	367649	rs1020973772	GRCh37: 9:98207600-98207600 GRCh38: 9:95445318-95445318
13	PTCH1	NM_000264.5(PTCH1):c.-78G>A	SNV	Uncertain Significance	367678	rs572958276	GRCh37: 9:98270721-98270721 GRCh38: 9:95508439-95508439
14	PTCH1	NM_000264.5(PTCH1):c.*3213T>C	SNV	Uncertain Significance	367619	rs992312438	GRCh37: 9:98205462-98205462 GRCh38: 9:95443180-95443180
15	PTCH1	NM_000264.5(PTCH1):c.2887+10G>A	SNV	Uncertain Significance	135886	rs202081420	GRCh37: 9:98221872-98221872 GRCh38: 9:95459590-95459590
16	PTCH1	NM_000264.5(PTCH1):c.*62C>T	SNV	Uncertain Significance	913150	rs1837877053	GRCh37: 9:98208613-98208613 GRCh38: 9:95446331-95446331
17	PTCH1	NM_000264.5(PTCH1):c.3449+11G>A	SNV	Uncertain Significance	390530	rs568528640	GRCh37: 9:98215749-98215749 GRCh38: 9:95453467-95453467
18	PTCH1	NM_000264.5(PTCH1):c.2703+12G>A	SNV	Uncertain Significance	913294	rs1295275193	GRCh37: 9:98224126-98224126 GRCh38: 9:95461844-95461844
19	PTCH1	NM_000264.5(PTCH1):c.*3138T>C	SNV	Uncertain Significance	912617	rs548583404	GRCh37: 9:98205537-98205537 GRCh38: 9:95443255-95443255
20	PTCH1	NM_000264.5(PTCH1):c.*3111G>A	SNV	Uncertain Significance	913718	rs1395471972	GRCh37: 9:98205564-98205564 GRCh38: 9:95443282-95443282
21	PTCH1	NM_000264.5(PTCH1):c.*2795G>T	SNV	Uncertain Significance	913719	rs773035324	GRCh37: 9:98205880-98205880 GRCh38: 9:95443598-95443598
22	PTCH1	NM_000264.5(PTCH1):c.*762G>C	SNV	Uncertain Significance	913101	rs763571205	GRCh37: 9:98207913-98207913 GRCh38: 9:95445631-95445631
23	PTCH1	NM_000264.5(PTCH1):c.*2737C>A	SNV	Uncertain Significance	914110	rs1038475537	GRCh37: 9:98205938-98205938 GRCh38: 9:95443656-95443656
24	PTCH1	NM_000264.5(PTCH1):c.*2425A>C	SNV	Uncertain Significance	914111	rs932959120	GRCh37: 9:98206250-98206250 GRCh38: 9:95443968-95443968
25	PTCH1	NM_000264.5(PTCH1):c.*1885G>A	SNV	Uncertain Significance	914157	rs892705165	GRCh37: 9:98206790-98206790 GRCh38: 9:95444508-95444508
26	PTCH1	NM_000264.5(PTCH1):c.*1757C>T	SNV	Uncertain Significance	914158	rs1837735115	GRCh37: 9:98206918-98206918 GRCh38: 9:95444636-95444636
27	PTCH1	NM_000264.5(PTCH1):c.*1353T>C	SNV	Uncertain Significance	913800	rs1837774312	GRCh37: 9:98207322-98207322 GRCh38: 9:95445040-95445040
28	PTCH1	NM_000264.5(PTCH1):c.*1256C>T	SNV	Uncertain Significance	914201	rs187832324	GRCh37: 9:98207419-98207419 GRCh38: 9:95445137-95445137
29	PTCH1	NM_000264.5(PTCH1):c.*1167A>G	SNV	Uncertain Significance	914202	rs192352160	GRCh37: 9:98207508-98207508 GRCh38: 9:95445226-95445226
30	PTCH1	NM_000264.5(PTCH1):c.*1153C>G	SNV	Uncertain Significance	914203	rs770443972	GRCh37: 9:98207522-98207522 GRCh38: 9:95445240-95445240
31	PTCH1	NM_000264.5(PTCH1):c.*750G>A	SNV	Uncertain Significance	913102	rs777077097	GRCh37: 9:98207925-98207925 GRCh38: 9:95445643-95445643
32	PTCH1	NM_000264.5(PTCH1):c.*592C>T	SNV	Uncertain Significance	914249	rs890920802	GRCh37: 9:98208083-98208083 GRCh38: 9:95445801-95445801
33	PTCH1	NM_000264.5(PTCH1):c.*186T>G	SNV	Uncertain Significance	367661	rs977327674	GRCh37: 9:98208489-98208489 GRCh38: 9:95446207-95446207
34	PTCH1	NM_000264.5(PTCH1):c.*3272C>T	SNV	Uncertain Significance	367617	rs963000528	GRCh37: 9:98205403-98205403 GRCh38: 9:95443121-95443121
35	PTCH1	NM_000264.5(PTCH1):c.*3209T>C	SNV	Uncertain Significance	367620	rs757611119	GRCh37: 9:98205466-98205466 GRCh38: 9:95443184-95443184
36	PTCH1	NM_000264.5(PTCH1):c.*1413C>G	SNV	Uncertain Significance	367645	rs1057515714	GRCh37: 9:98207262-98207262 GRCh38: 9:95444980-95444980
37	PTCH1	NM_000264.5(PTCH1):c.*2644A>C	SNV	Uncertain Significance	367625	rs773680534	GRCh37: 9:98206031-98206031 GRCh38: 9:95443749-95443749
38	PTCH1	NM_000264.5(PTCH1):c.1476A>G (p.Gly492=)	SNV	Uncertain Significance	367674	rs1057515720	GRCh37: 9:98239856-98239856 GRCh38: 9:95477574-95477574
39	PTCH1	NM_000264.5(PTCH1):c.*1358G>A	SNV	Uncertain Significance	367647	rs756098510	GRCh37: 9:98207317-98207317 GRCh38: 9:95445035-95445035
40	PTCH1	NM_000264.5(PTCH1):c.*623C>T	SNV	Uncertain Significance	367657	rs776158552	GRCh37: 9:98208052-98208052 GRCh38: 9:95445770-95445770
41	PTCH1	NM_000264.5(PTCH1):c.*2276A>T	SNV	Uncertain Significance	367627	rs868749157	GRCh37: 9:98206399-98206399 GRCh38: 9:95444117-95444117
42	PTCH1	NM_000264.5(PTCH1):c.*3080G>T	SNV	Uncertain Significance	367622	rs1006981555	GRCh37: 9:98205595-98205595 GRCh38: 9:95443313-95443313
43	PTCH1	NM_000264.5(PTCH1):c.*2146A>G	SNV	Uncertain Significance	367630	rs538345753	GRCh37: 9:98206529-98206529 GRCh38: 9:95444247-95444247
44	PTCH1	NM_000264.5(PTCH1):c.3765C>A (p.Ile1255=)	SNV	Uncertain Significance	367665	rs758229027	GRCh37: 9:98211390-98211390 GRCh38: 9:95449108-95449108
45	PTCH1	NM_000264.5(PTCH1):c.*1896T>C	SNV	Uncertain Significance	367635	rs949498288	GRCh37: 9:98206779-98206779 GRCh38: 9:95444497-95444497
46	PTCH1	NM_000264.5(PTCH1):c.*3337T>C	SNV	Uncertain Significance	367616	rs551093780	GRCh37: 9:98205338-98205338 GRCh38: 9:95443056-95443056
47	PTCH1	NM_000264.5(PTCH1):c.*1220A>G	SNV	Uncertain Significance	367648	rs930382710	GRCh37: 9:98207455-98207455 GRCh38: 9:95445173-95445173
48	PTCH1	NM_000264.5(PTCH1):c.*1904T>C	SNV	Uncertain Significance	367634	rs992648722	GRCh37: 9:98206771-98206771 GRCh38: 9:95444489-95444489
49	PTCH1	NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met)	SNV	Uncertain Significance	8224	rs138911275	GRCh37: 9:98220308-98220308 GRCh38: 9:95458026-95458026
50	PTCH1, LOC100507346	NM_000264.5(PTCH1):c.2560+6A>G	SNV	Uncertain Significance	1341803		GRCh37: 9:98229392-98229392 GRCh38: 9:95467110-95467110

UniProtKB/Swiss-Prot genetic disease variations for Holoprosencephaly 7:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	PTCH1	p.Ala393Thr	VAR_032952	rs199476091
2	PTCH1	p.Ala443Gly	VAR_032953	rs878853845
3	PTCH1	p.Thr728Met	VAR_032954	rs115556836
4	PTCH1	p.Val751Gly	VAR_032955
5	PTCH1	p.Ser827Gly	VAR_032956	rs199476092
6	PTCH1	p.Val908Gly	VAR_032957	rs199476093
7	PTCH1	p.Thr1052Met	VAR_032958	rs138911275

Sources

Expression for Holoprosencephaly 7

Search GEO for disease gene expression data for Holoprosencephaly 7.

Sources

Pathways for Holoprosencephaly 7

Pathways related to Holoprosencephaly 7 according to GeneCards Suite gene sharing:

(show all 14)

#	Super pathways	Score	Top Affiliating Genes
1	Signal Transduction ⁶⁶	13.43	STAG2 SMO PTCH1 GLI2 DHH ALDH1A2
2	Signaling by Hedgehog ⁶⁶ Show member pathways Hedgehog 'off' state ⁶⁶	12.15	SMO PTCH1 GLI2 DHH
3	Presynaptic function of Kainate receptors ⁶⁶ Show member pathways Activation of Ca-permeable Kainate Receptor ⁶⁶ Activation of kainate receptors upon glutamate binding ⁶⁶ Activation of Na-permeable kainate receptors ⁶⁶ Calcitonin-like ligand receptors ⁶⁶ Class B/2 (Secretin family receptors) ⁶⁶ G beta:gamma signalling through PLC beta ⁶⁶ Glucagon-type ligand receptors ⁶⁶ G-Protein Signaling through Tubby Protein ⁶⁴ Ionotropic activity of kainate receptors ⁶⁶	12.09	SMO PTCH1 DHH
4	Bardet-Biedl syndrome ⁷⁴ Show member pathways Genes related to primary cilium development (based on CRISPR) ⁷⁴	11.79	ZIC2 SMO PTCH1
5	Ciliopathies ⁷⁴	11.68	ZIC2 SMO GLI2
6	Osteoblast differentiation and related diseases ⁷⁴	11.38	GLI2 PTCH1 SMO
7	Development of ureteric collection system ⁷⁴	11.18	SMO GLI2
8	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²²	11.14	SMO PTCH1 GLI2
9	Hedgehog signaling events mediated by Gli proteins ⁶¹	11.08	SMO PTCH1 GLI2
10	Hedgehog signaling pathway ⁷⁴	11.08	SMO PTCH1 GLI2 DHH
11	Alstrom syndrome ⁷⁴	10.96	SMO PTCH1
12	Hair follicle development: organogenesis - part 2 of 3 ⁷⁴	10.83	SMO PTCH1 GLI2
13	Tumor suppressor activity of SMARCB1 ⁷⁴ Show member pathways GLI proteins bind promoters of Hh responsive genes to promote transcription ⁶⁶	10.79	SMO PTCH1 GLI4 GLI2
14	Signaling events mediated by the Hedgehog family ⁶¹ Show member pathways HHAT G278V doesn't palmitoylate Hh-Np ⁶⁶ Ligand-receptor interactions ⁶⁶	10.58	SMO PTCH1 GLI2 DISP1 DHH

Sources

GO Terms for Holoprosencephaly 7

Biological processes related to Holoprosencephaly 7 according to GeneCards Suite gene sharing:

(show all 26)

#	Name	GO ID	Score	Top Affiliating Genes
1	osteoblast differentiation	GO:0001649	10	SMO GLI2 DHH
2	response to estradiol	GO:0032355	10	PTCH1 DHH ALDH1A2
3	proximal/distal pattern formation	GO:0009954	9.91	GLI2 ALDH1A2
4	hindbrain development	GO:0030902	9.89	GLI2 ALDH1A2
5	embryonic digestive tract development	GO:0048566	9.88	ALDH1A2 GLI2
6	cellular response to cholesterol	GO:0071397	9.88	SMO PTCH1
7	somite development	GO:0061053	9.87	SMO PTCH1
8	anterior/posterior pattern specification	GO:0009952	9.86	SMO GLI2 ALDH1A2
9	mammary gland epithelial cell differentiation	GO:0060644	9.85	SMO PTCH1
10	smooth muscle tissue development	GO:0048745	9.84	SMO PTCH1
11	heart morphogenesis	GO:0003007	9.83	SMO PTCH1 ALDH1A2
12	commissural neuron axon guidance	GO:0071679	9.81	PTCH1 SMO
13	mammary gland development	GO:0030879	9.8	PTCH1 GLI2
14	negative regulation of smoothened signaling pathway	GO:0045879	9.8	PTCH1 GLI2
15	midgut development	GO:0007494	9.8	SMO ALDH1A2
16	developmental growth	GO:0048589	9.79	SMO GLI2
17	epithelial cell proliferation	GO:0050673	9.78	SMO PTCH1 GLI2
18	spinal cord motor neuron differentiation	GO:0021522	9.77	PTCH1 GLI2
19	pituitary gland development	GO:0021983	9.73	SIX3 GLI2 ALDH1A2
20	cerebellar cortex morphogenesis	GO:0021696	9.71	SMO GLI2
21	pattern specification process	GO:0007389	9.67	SMO PTCH1 GLI2
22	mammary gland duct morphogenesis	GO:0060603	9.63	PTCH1 GLI2
23	dorsal/ventral neural tube patterning	GO:0021904	9.55	SMO PTCH1 GLI2
24	smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation	GO:0021938	9.5	GLI2 SMO
25	dorsal/ventral pattern formation	GO:0009953	9.43	SMO PTCH1 GLI2 DISP1
26	smoothened signaling pathway	GO:0007224	9.32	SMO PTCH1 GLI2 DISP1 DHH

Molecular functions related to Holoprosencephaly 7 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	patched binding	GO:0005113	9.1	SMO PTCH1 DHH

Sources

Sources for Holoprosencephaly 7

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

HPE7 MCID: HLP027 MIFTS: 47	Holoprosencephaly 7 (HPE7) Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Holoprosencephaly 7 (HPE7)

Aliases & Classifications for Holoprosencephaly 7

MalaCards integrated aliases for Holoprosencephaly 7:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Holoprosencephaly 7

Related Diseases for Holoprosencephaly 7

Diseases in the Holoprosencephaly family:

Diseases related to Holoprosencephaly 7 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Holoprosencephaly 7:

Symptoms & Phenotypes for Holoprosencephaly 7

Human phenotypes related to Holoprosencephaly 7:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Holoprosencephaly 7:

MGI Mouse Phenotypes related to Holoprosencephaly 7:

Drugs & Therapeutics for Holoprosencephaly 7

Cochrane evidence based reviews: holoprosencephaly 7

Genetic Tests for Holoprosencephaly 7

Genetic tests related to Holoprosencephaly 7:

Anatomical Context for Holoprosencephaly 7

Organs/tissues related to Holoprosencephaly 7:

Publications for Holoprosencephaly 7

Articles related to Holoprosencephaly 7:

Genes for Holoprosencephaly 7

Genes related to Holoprosencephaly 7 (2 elite genes):

Variations for Holoprosencephaly 7

ClinVar genetic disease variations for Holoprosencephaly 7:

UniProtKB/Swiss-Prot genetic disease variations for Holoprosencephaly 7:

Expression for Holoprosencephaly 7

Pathways for Holoprosencephaly 7

Pathways related to Holoprosencephaly 7 according to GeneCards Suite gene sharing:

GO Terms for Holoprosencephaly 7

Biological processes related to Holoprosencephaly 7 according to GeneCards Suite gene sharing:

Molecular functions related to Holoprosencephaly 7 according to GeneCards Suite gene sharing:

Sources for Holoprosencephaly 7