MCID: HLL001
MIFTS: 53

Hallermann-Streiff Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Hallermann-Streiff Syndrome

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Aliases & Descriptions for Hallermann-Streiff Syndrome:

Name: Hallermann-Streiff Syndrome 50 11 46 23 13 52 68 12
Francois Dyscephalic Syndrome 11 46 23 68
Hallermann's Syndrome 11 37 66
Hallermann Streiff Syndrome 46 25
Hss 46 68
 
Hallermann Streiff Francois Syndrome 46
François Dyscephalic Syndrome 52
Oculomandibulofacial Syndrome 52
Hallerman - Streiff Syndrome 11

Characteristics:

Orphanet epidemiological data:

52
hallermann-streiff syndrome:
Inheritance: Not applicable; Age of onset: Infancy,Neonatal

HPO:

62
hallermann-streiff syndrome:
Inheritance: sporadic


Classifications:



External Ids:

OMIM50 234100
Disease Ontology11 DOID:4534
MeSH37 D006210
NCIt43 C84746
SNOMED-CT60 205417000, 7903009
Orphanet52 ORPHA2108
ICD10 via Orphanet29 Q87.0
UMLS via Orphanet67 C0018522
MedGen35 C0018522

Summaries for Hallermann-Streiff Syndrome

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NIH Rare Diseases:46 Hallermann-streiff syndrome is a rare, congenital condition characterized mainly by abnormalities of the skull and facial bones; characteristic facial features; sparse hair; eye abnormalities; dental defects; degenerative skin changes; and proportionate short stature. intellectual disability is present in some individuals. almost all reported cases of the condition appear to have occurred randomly for unknown reasons (sporadically) and are thought to have resulted from a new mutation in the affected individual. treatment is symptomatic and supportive. last updated: 7/23/2012

MalaCards based summary: Hallermann-Streiff Syndrome, also known as francois dyscephalic syndrome, is related to neurodegeneration with brain iron accumulation 1 and cataract, and has symptoms including micrognathia, convex nasal ridge and cataract. An important gene associated with Hallermann-Streiff Syndrome is GJA1 (Gap Junction Protein Alpha 1), and among its related pathways are Transport of connexins along the secretory pathway and Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). Affiliated tissues include skin, bone and eye, and related mouse phenotypes are vision/eye and muscle.

Disease Ontology:11 A syndrome that affects growth, cranial development, hair growth and dental development.

UniProtKB/Swiss-Prot:68 Hallermann-Streiff syndrome: A disorder characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies and proportionate short stature. Mental retardation is present in a minority of cases.

OMIM:50 Hallermann-Streiff syndrome is characterized by a typical skull shape (brachycephaly with frontal bossing),... (234100) more...

Related Diseases for Hallermann-Streiff Syndrome

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Diseases in the Hallermann-Streiff Syndrome family:

Hallermann-Streiff-Like Syndrome

Diseases related to Hallermann-Streiff Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
idRelated DiseaseScoreTop Affiliating Genes
1neurodegeneration with brain iron accumulation 111.1
2cataract10.5
3cerebellar ataxia, mental retardation and dysequlibrium syndrome10.5GJA1, GJC2
4retinitis10.5
5retinal detachment10.5
6hypotrichosis10.3
7rhinosporidiosis10.3IGF2, OPTN
8oculodentodigital dysplasia10.2
9aniridia10.2
10coats disease10.2
11bone fracture10.2
12sleep apnea10.2
13obstructive sleep apnea10.2
14sclerocornea10.2
15tracheomalacia10.2
16enophthalmos10.2
17choroiditis10.2
18entropion10.2
19laryngitis10.2
20progeria10.2
21hypopituitarism10.2
22esotropia10.2
23hemihypertrophy10.2
24erythrokeratodermia variabilis et progressiva10.1GJA1, GJB1
25pelvic dysplasia arthrogryposis of lower limbs10.1GJA1, GJB1, GJC2
2646 xy gonadal dysgenesis10.1GJA1, OPTN
27syndactyly, type iii10.1GJA1, GJB1, GJC2
28necrotizing ulcerative gingivitis10.1IGF1, IGF2
29growth hormone insensitivity, partial10.1IGF1, IGF2
30multiple mitochondrial dysfunctions syndrome10.1IGF1, IGF2
31fetal methyl mercury syndrome10.1IGF1, IGF2
32kartagener syndrome10.0IGF1, IGF2
33osteopetrosis10.0IGF1, IGF2
34splenic artery aneurysm10.0IGF1, IGF2
35perivascular epithelioid cell tumor10.0IGF1, IGF2
36bone marrow cancer9.9IGF1, IGF2
37testicular trophoblastic tumor9.9GJA1, NOTCH1
38retinal dystrophies primarily involving bruch's membrane9.9IGF1, IGF2
39patellofemoral pain syndrome9.8IGF1, IGF2
40lethal restrictive dermopathy, lmna-related9.8ERBB4, NOTCH1
41ichthyosis lamellar 29.7GJA1, NOTCH1
42laryngeal carcinoma9.5IGF1, IGF2
43hallux varus and preaxial polysyndactyly6.6BCS1L, ERBB4, GJA1, GJB1, GJC2, IGF1

Graphical network of the top 20 diseases related to Hallermann-Streiff Syndrome:



Diseases related to hallermann-streiff syndrome

Symptoms for Hallermann-Streiff Syndrome

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Symptoms by clinical synopsis from OMIM:

234100

Clinical features from OMIM:

234100

Symptoms:

 52 (show all 50)
  • cryptorchidism
  • abnormality of the tongue
  • narrow mouth
  • glossoptosis
  • abnormality of the teeth
  • abnormality of the fontanelles or cranial sutures
  • brachycephaly
  • microcephaly
  • malar flattening
  • micrognathia
  • underdeveloped nasal alae
  • convex nasal ridge
  • choanal atresia
  • strabismus
  • glaucoma
  • visual impairment
  • telecanthus
  • congenital cataract
  • sparse eyebrow
  • myopia
  • uveitis
  • microphthalmos
  • nystagmus
  • sparse eyelashes
  • natal tooth
  • short ribs
  • hypothyroidism
  • rib exostoses
  • abnormality of the skull
  • hypotrichosis
  • intellectual disability
  • cerebellar hypoplasia
  • alopecia
  • congestive heart failure
  • short foot
  • frontal bossing
  • respiratory insufficiency
  • sparse body hair
  • malformation of the heart and great vessels
  • high, narrow palate
  • recurrent fractures
  • tracheomalacia
  • abdominal situs inversus
  • proportionate short stature
  • clinodactyly of the 5th finger
  • dermal atrophy
  • reduced bone mineral density
  • abnormality of hair texture
  • increased number of teeth
  • small hand

HPO human phenotypes related to Hallermann-Streiff Syndrome:

(show all 104)
id Description Frequency HPO Source Accession
1 micrognathia hallmark (90%) HP:0000347
2 convex nasal ridge hallmark (90%) HP:0000444
3 cataract hallmark (90%) HP:0000518
4 abnormality of the ribs hallmark (90%) HP:0000772
5 abnormality of the clavicle hallmark (90%) HP:0000889
6 alopecia hallmark (90%) HP:0001596
7 frontal bossing hallmark (90%) HP:0002007
8 short stature hallmark (90%) HP:0004322
9 reduced bone mineral density hallmark (90%) HP:0004349
10 aplasia/hypoplasia affecting the eye hallmark (90%) HP:0008056
11 aplasia/hypoplasia of the skin hallmark (90%) HP:0008065
12 narrow mouth typical (50%) HP:0000160
13 glossoptosis typical (50%) HP:0000162
14 abnormality of the palate typical (50%) HP:0000174
15 abnormality of the fontanelles or cranial sutures typical (50%) HP:0000235
16 micrognathia typical (50%) HP:0000347
17 visual impairment typical (50%) HP:0000505
18 telecanthus typical (50%) HP:0000506
19 recurrent fractures typical (50%) HP:0002757
20 abnormality of the nares typical (50%) HP:0005288
21 advanced eruption of teeth typical (50%) HP:0006288
22 hypoplasia of the zygomatic bone typical (50%) HP:0010669
23 abnormality of hair texture typical (50%) HP:0010719
24 increased number of teeth typical (50%) HP:0011069
25 intellectual disability 15% HP:0001249
26 cryptorchidism occasional (7.5%) HP:0000028
27 microcephaly occasional (7.5%) HP:0000252
28 choanal atresia occasional (7.5%) HP:0000453
29 strabismus occasional (7.5%) HP:0000486
30 glaucoma occasional (7.5%) HP:0000501
31 myopia occasional (7.5%) HP:0000545
32 nystagmus occasional (7.5%) HP:0000639
33 hypothyroidism occasional (7.5%) HP:0000821
34 congestive heart failure occasional (7.5%) HP:0001635
35 short foot occasional (7.5%) HP:0001773
36 respiratory insufficiency occasional (7.5%) HP:0002093
37 tracheomalacia occasional (7.5%) HP:0002779
38 abdominal situs inversus occasional (7.5%) HP:0003363
39 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
40 short palm occasional (7.5%) HP:0004279
41 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
42 inflammatory abnormality of the eye occasional (7.5%) HP:0100533
43 cognitive impairment occasional (7.5%) HP:0100543
44 cryptorchidism HP:0000028
45 narrow mouth HP:0000160
46 narrow palate HP:0000189
47 high palate HP:0000218
48 everted lower lip vermilion HP:0000232
49 thin vermilion border HP:0000233
50 parietal bossing HP:0000242
51 brachycephaly HP:0000248
52 microcephaly HP:0000252
53 dolichocephaly HP:0000268
54 malar flattening HP:0000272
55 micrognathia HP:0000347
56 low-set ears HP:0000369
57 underdeveloped nasal alae HP:0000430
58 narrow nose HP:0000460
59 strabismus HP:0000486
60 downslanted palpebral fissures HP:0000494
61 cataract HP:0000518
62 sparse and thin eyebrow HP:0000535
63 chorioretinal coloboma HP:0000567
64 microphthalmia HP:0000568
65 optic nerve coloboma HP:0000588
66 blue sclerae HP:0000592
67 iris coloboma HP:0000612
68 nystagmus HP:0000639
69 sparse eyelashes HP:0000653
70 dental malocclusion HP:0000689
71 natal tooth HP:0000695
72 hyperactivity HP:0000752
73 pectus excavatum HP:0000767
74 thin ribs HP:0000883
75 dry skin HP:0000958
76 telangiectasia HP:0001009
77 abnormality of the hand HP:0001155
78 choreoathetosis HP:0001266
79 joint hypermobility HP:0001382
80 small for gestational age HP:0001518
81 selective tooth agenesis HP:0001592
82 abnormality of the nasopharynx HP:0001739
83 frontal bossing HP:0002007
84 generalized tonic-clonic seizures HP:0002069
85 pulmonary hypertension HP:0002092
86 recurrent respiratory infections HP:0002205
87 fine hair HP:0002213
88 spina bifida HP:0002414
89 wormian bones HP:0002645
90 scoliosis HP:0002650
91 platybasia HP:0002691
92 tracheomalacia HP:0002779
93 obstructive sleep apnea HP:0002870
94 metaphyseal widening HP:0003016
95 slender long bone HP:0003100
96 hyperlordosis HP:0003307
97 proportionate short stature HP:0003508
98 dermal atrophy HP:0004334
99 hypotrichosis of the scalp HP:0004782
100 recurrent pneumonia HP:0006532
101 decreased number of sternal ossification centers HP:0006611
102 sparse hair HP:0008070
103 thin calvarium HP:0010539
104 increased number of teeth HP:0011069

Drugs & Therapeutics for Hallermann-Streiff Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hallermann-Streiff Syndrome


Cochrane evidence based reviews: hallermann's syndrome

Genetic Tests for Hallermann-Streiff Syndrome

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Genetic tests related to Hallermann-Streiff Syndrome:

id Genetic test Affiliating Genes
1 Hallermann-Streiff Syndrome25 23

Anatomical Context for Hallermann-Streiff Syndrome

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MalaCards organs/tissues related to Hallermann-Streiff Syndrome:

34
Skin, Bone, Eye, Heart, Cerebellum, Tongue, Brain

Animal Models for Hallermann-Streiff Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Hallermann-Streiff Syndrome:

39 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.3GJA1, GJB1, GJC2, IGF2, NOTCH1
2MP:00053698.2ERBB4, GJA1, IGF1, IGF2, NOTCH1
3MP:00053888.2ERBB4, GJA1, IGF1, IGF2, NOTCH1
4MP:00053867.7BCS1L, ERBB4, GJA1, GJB1, GJC2, IGF2
5MP:00053797.6BCS1L, ERBB4, GJA1, IGF1, IGF2, NOTCH1
6MP:00053977.4ERBB4, GJA1, GJB1, GJC2, IGF1, IGF2
7MP:00036317.2ERBB4, GJA1, GJB1, GJC2, IGF1, IGF2
8MP:00053877.1ERBB4, GJA1, GJB1, GJC2, IGF1, IGF2
9MP:00053847.1BCS1L, ERBB4, GJA1, GJB1, GJC2, IGF1
10MP:00107686.6BCS1L, ERBB4, GJA1, GJB1, GJC2, IGF1

Publications for Hallermann-Streiff Syndrome

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Articles related to Hallermann-Streiff Syndrome:

(show top 50)    (show all 97)
idTitleAuthorsYear
1
EXUDATIVE RETINAL DETACHMENT CAUSED BY A CHOROIDAL NEOVASCULAR MEMBRANE IN HALLERMANN-STREIFF SYNDROME. (27648586)
2016
2
Treatment of the nasal abnormalities of Hallermann-Streiff syndrome by lipofilling. (26194770)
2015
3
Hallermann-streiff syndrome. (24082185)
2013
4
Hallermann-Streiff syndrome with cutaneous manifestations. (24168356)
2013
5
Reproductive success in patients with Hallermann-Streiff syndrome. (21815247)
2011
6
Hallermann-Streiff syndrome with severe bilateral enophthalmos and radiological evidence of silent brain syndrome: a new congenital silent brain syndrome? (21792277)
2011
7
Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies. (22570643)
2011
8
Hallermann-Streiff syndrome: a case report. (21163145)
2010
9
Hallermann-Streiff Syndrome: a case report from Turkey. (19218897)
2009
10
Lighted stylet-guided intubation via the intubating laryngeal airway in a patient with Hallermann-Streiff syndrome. (19247763)
2009
11
Macular retinal detachment in Hallermann-Streiff syndrome. (18268225)
2008
12
Corneal opacities in the Hallermann-Streiff syndrome. (18484310)
2008
13
Hallermann-Streiff syndrome associated with complete agenesis of the corpus callosum. (16225817)
2005
14
Hallermann-Streiff syndrome: a case review. (15347328)
2004
15
Non-lethal Hallermann-Streiff syndrome with bone fracture: report of a case. (15581837)
2004
16
Case report: orofacial characteristics of Hallermann-Streiff Syndrome. (14529338)
2003
17
Chromosomal and clinical features in an infant with Hallermann-Streiff syndrome. (9301367)
1997
18
Atrial septal defect in Hallermann Streiff syndrome. (9219014)
1997
19
Lethal syndrome of slender bones, intrauterine fractures, characteristics facial appearance, and cataracts, resembling Hallermann-Streiff syndrome in two sibs. (8585575)
1995
20
A typical Hallermann-Streiff syndrome in a 3 year old child. (8634201)
1995
21
Hallermann-Streiff syndrome in one of dizygotic twins. (8116678)
1994
22
Hallermann-Streiff syndrome: airway problems during anaesthesia. (9136243)
1994
23
Hallermann-Streiff syndrome. (8262609)
1993
24
Hallermann-Streiff syndrome. (1428149)
1992
25
Successful pregnancy in a patient with Hallermann-Streiff syndrome. (2014833)
1991
26
Hallermann-Streiff syndrome: a review. (1776643)
1991
27
Radiological findings in Hallermann-Streiff syndrome: report of five cases and a review of the literature. (1776646)
1991
28
Congenital cataracts in mother, sister, and son of a patient with Hallermann-Streiff syndrome: coincidence or clue? (1776644)
1991
29
Hallermann-Streiff syndrome with hypopituitarism contributing to growth failure. (1776645)
1991
30
Nasal continuous positive airway pressure (CPAP) therapy for obstructive sleep apnea in Hallermann-Streiff syndrome. (2406080)
1990
31
Evaluation and surgical correction of the facial skeletal deformity in Hallermann-Streiff syndrome. (3125273)
1987
32
Hallermann Streiff syndrome. (3679511)
1987
33
Hallermann-Streiff syndrome and its oral implications. (3455956)
1986
34
Hallermann-Streiff syndrome: report of case. (2942586)
1986
35
Cardiorespiratory disease associated with Hallermann-Streiff syndrome: analysis of craniofacial morphology by cephalometric roentgenograms. (3877095)
1985
36
Mandibulo-oculo-facial dyscephaly (Hallermann-Streiff syndrome) in a boy resulted from a consanguineous marriage. (7291945)
1981
37
Central serous choroidopathy in the Hallermann-Streiff Syndrome. (7294642)
1981
38
Hallermann-Streiff syndrome associated with sclerocornea, aniridia, and a chromosomal abnormality. (6999913)
1980
39
Hallermann-Streiff syndrome. (7364147)
1980
40
Anesthetic management of a patient with Hallermann-Streiff syndrome. (572167)
1979
41
Bilateral dislocation of the hip in Hallermann-Streiff syndrome. A case report. (1184628)
1975
42
The Hallermann-Streiff syndrome. (4449119)
1974
43
Hallermann-Streiff syndrome. (4644299)
1972
44
Glaucoma in the Hallermann-Streiff syndrome. (5448132)
1970
45
Craniofacial and oral manifestations in oculomandibulodyscephaly (Hallermann-Streiff syndrome). (5272043)
1970
46
Hallermann-Streiff syndrome. (5782859)
1969
47
Hallermann-Streiff syndrome. Case report. (5668584)
1968
48
Dyscephalia mandibulo-oculo-facialis. Hallermann-Streiff syndrome. A case report. (5587180)
1967
49
Roentgen differentiation of the oculodentodigital syndrome and the Hallermann-Streiff syndrome in infancy. (4955061)
1966
50
Hallermann-Streiff syndrome, a dyscephaly with congenital cataracts and hypotrichosis. (13821451)
1960

Variations for Hallermann-Streiff Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Hallermann-Streiff Syndrome:

68
id Symbol AA change Variation ID SNP ID
1GJA1p.Arg76HisVAR_058997rs267606844

Expression for genes affiliated with Hallermann-Streiff Syndrome

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Search GEO for disease gene expression data for Hallermann-Streiff Syndrome.

Pathways for genes affiliated with Hallermann-Streiff Syndrome

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GO Terms for genes affiliated with Hallermann-Streiff Syndrome

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Cellular components related to Hallermann-Streiff Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1connexin complexGO:00059229.6GJA1, GJB1, GJC2
2gap junctionGO:00059219.4GJA1, GJB1, GJC2

Biological processes related to Hallermann-Streiff Syndrome according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1gap junction assemblyGO:001626410.2GJA1, GJB1
2positive regulation of glycogen biosynthetic processGO:004572510.0IGF1, IGF2
3positive regulation of activated T cell proliferationGO:00421049.9IGF1, IGF2
4regulation of bone mineralizationGO:00305009.9GJA1, OMD
5regulation of calcium ion transportGO:00519249.9GJA1, IGF1
6positive regulation of tyrosine phosphorylation of Stat5 proteinGO:00425239.8ERBB4, IGF1
7transmembrane transportGO:00550859.7GJA1, GJB1, GJC2
8positive regulation of cardiac muscle cell proliferationGO:00600459.7ERBB4, NOTCH1
9cell-cell signalingGO:00072679.7GJA1, GJB1, GJC2
10response to nicotineGO:00350949.3IGF1, IGF2
11positive regulation of mitotic nuclear divisionGO:00458409.1IGF1, IGF2
12heart developmentGO:00075078.8ERBB4, GJA1, NOTCH1
13positive regulation of cell proliferationGO:00082848.1ERBB4, IGF1, IGF2, NOTCH1

Molecular functions related to Hallermann-Streiff Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:00052439.7GJA1, GJB1, GJC2
2insulin-like growth factor receptor bindingGO:00051599.6IGF1, IGF2
3insulin receptor bindingGO:00051589.4IGF1, IGF2

Sources for Hallermann-Streiff Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet