HSS
MCID: HLL001
MIFTS: 59

Hallermann-Streiff Syndrome (HSS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases categories
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Summaries for Hallermann-Streiff Syndrome

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Sources:
8Disease Ontology, 43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Hallermann-Streiff Syndrome, also known as hallermann streiff syndrome, is related to cataract and hypotrichosis, and has symptoms including situs inversus visceralis/colon/intestine trasposition/heterotaxia, alopecia and chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis. An important gene associated with Hallermann-Streiff Syndrome is GJA1 (gap junction protein, alpha 1, 43kDa), and among its related pathways are Hypertrophic cardiomyopathy (HCM) and Myometrial Relaxation and Contraction Pathways. The compounds lycopene and chelerythrine have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye, and related mouse phenotypes are reproductive system and endocrine/exocrine gland.

Disease Ontology:8 A syndrome that affects growth, cranial development, hair growth and dental development.

Description from OMIM:47 234100

Aliases & Classifications for Hallermann-Streiff Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 10DISEASES, 49Orphanet, 47OMIM, 62UMLS, 40NCIt, 35MeSH, 58SNOMED-CT, 26ICD10 via Orphanet, 63UMLS via Orphanet, 59SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
hallermann-streiff syndrome:
Inheritance: Sporadic; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

hallermann-streiff syndrome 8 9 43 10 49 47
hallermann streiff syndrome 43 20 22
francois dyscephalic syndrome 8 43
hallermann's syndrome 8 62
hallermann streiff francois syndrome 43
françois dyscephalic syndrome 49
hallerman - streiff syndrome 8
hss 43


External Ids:

Disease Ontology8 DOID:4534
NCIt40 C84746
OMIM47 234100
SNOMED-CT58 205417000, 7903009
ICD10 via Orphanet26 Q87.0
UMLS via Orphanet63 C0018522
SNOMED-CT via Orphanet59 7903009

Related Diseases for Hallermann-Streiff Syndrome

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Sources:
17GeneCards, 18GeneDecks
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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/GeneDecks gene sharing:

(show all 24)
idRelated DiseaseScoreTop Affiliating Genes
1cataract10.7
2hypotrichosis10.5
3retinal detachment10.5
4retinitis10.5
5bone fracture10.3
6obstructive sleep apnea10.3
7coats disease10.3
8aniridia10.3
9enophthalmos10.3
10progeria10.3
11entropion10.3
12esotropia10.3
13glaucoma10.3
14hypopituitarism10.3
15laryngitis10.3
16sleep apnea10.3
17oculodentodigital dysplasia10.3
18hemihypertrophy10.3
19cor pulmonale10.3
20uterine fibroid10.0IGF1, GJA1
21congenital heart disease10.0IGF1, GJA1
22osteosarcoma10.0IGF1, GJA1
23endometrial carcinoma10.0IGF1, GJA1
24hypertrophy of breast10.0IGF1, GJA1

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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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

234100

Clinical features from OMIM:

234100

Symptoms:

49 (show all 52)
  • situs inversus visceralis/colon/intestine trasposition/heterotaxia
  • alopecia
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • large fontanelle/delayed fontanelle closure
  • supernumerary teeth/polyodontia
  • skin hypoplasia/aplasia/atrophy
  • clinodactyly of fifth finger
  • choanal atresia
  • glaucoma
  • beaked nose
  • decreased body hair/axillar/pubic hairlessness
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • abnormal hair texture/hair dysplasia
  • small/triangular nares/nostrils
  • small foot
  • hypoplastic mandibula/partial absence of the mandibula
  • premature eruption of teeth/natal teeth
  • clavicle absent/abnormal
  • tracheomalacia/tracheobronchomalacia
  • small hand/acromicria
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • myopia
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • microcephaly
  • short stature/dwarfism/nanism
  • anomalies of teeth and dentition
  • cataract/lens opacification
  • early death/lethality
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • hypothyroidy
  • high vaulted/narrow palate
  • nystagmus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • autosomal recessive inheritance
  • flat cheek bones/malar hypoplasia
  • visual loss/blindness/amblyopia
  • brachycephaly/flat occiput
  • telecanthus/canthal dystopy
  • anomalies of eyelids, eyelashes and lacrimal system
  • skull/cranial anomalies
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • microstomia/little mouth
  • anomalies of tongue, gingiva and oral mucosa
  • mutiple fractures/bone fragility
  • strabismus/squint
  • heart/cardiac failure
  • congenital cardiac anomaly/malformation/cardiopathy
  • anomalies of the ribs
  • glossoptosis
  • micrognathia/retrognathia/micrognathism/retrognathism
  • frontal bossing/prominent forehead

Drugs & Therapeutics for Hallermann-Streiff Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Hallermann-Streiff Syndrome

Search NIH Clinical Center for Hallermann-Streiff Syndrome

Genetic Tests for Hallermann-Streiff Syndrome

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Hallermann-Streiff Syndrome:

id Genetic test Affiliating Genes
1 Hallermann-Streiff Syndrome20 22

Anatomical Context for Hallermann-Streiff Syndrome

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33MalaCards
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MalaCards organs/tissues related to Hallermann-Streiff Syndrome:

33
Skin, Bone, Eye, Testes, Cerebellum, Heart, Lung, Tongue, Colon, Brain

Animal Models for Hallermann-Streiff Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Hallermann-Streiff Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.8IGF1, BCS1L, GJA1
2MP:00053798.7IGF1, GJA1, BCS1L
3MP:00028738.3GJC2, GJA1, IGF1
4MP:00107688.0IGF1, GJA1, GJC2, BCS1L

Publications for Hallermann-Streiff Syndrome

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Sources:
52PubMed
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Articles related to Hallermann-Streiff Syndrome:

(show top 50)    (show all 89)
idTitleAuthorsYear
1
Difficult intubation in an infant with Hallermann-Streiff syndrome-easy with Airtraq laryngoscope. (22486910)
2012
2
Orodental findings in Hallermann-Streiff syndrome. (22842271)
2012
3
Hallermann-Streiff syndrome: a case report from Georgia. (21617280)
2011
4
Hallermann-Streiff syndrome patient treated with removable prosthesis: a clinical report. (21821160)
2011
5
Hallermann-Streiff syndrome: case report and literature review. (21516279)
2011
6
Reproductive success in patients with Hallermann-Streiff syndrome. (21815247)
2011
7
Hallermann-Streiff syndrome with severe bilateral enophthalmos and radiological evidence of silent brain syndrome: a new congenital silent brain syndrome? (21792277)
2011
8
Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies. (22570643)
2011
9
Hallermann-Streiff syndrome with hemihypertrophy. (20964125)
2010
10
Hallermann-Streiff syndrome: a case report. (21163145)
2010
11
Lighted stylet-guided intubation via the intubating laryngeal airway in a patient with Hallermann-Streiff syndrome. (19247763)
2009
12
Exudative retinal detachment following cataract surgery in Hallermann-Streiff syndrome. (18193263)
2008
13
Macular retinal detachment in Hallermann-Streiff syndrome. (18268225)
2008
14
An atypical Hallermann-Streiff syndrome. Focus on dental care and differential diagnosis. (14765641)
2004
15
Hallermann-Streiff syndrome: a case review. (15347328)
2004
16
Non-lethal Hallermann-Streiff syndrome with bone fracture: report of a case. (15581837)
2004
17
Hallermann-Streiff syndrome associated with small cerebellum, endocrinopathy and increased chromosomal breakage. (12892173)
2003
18
Hallermann-Streiff syndrome: experience with 15 patients and review of the literature. (10388418)
1999
19
Obstructive sleep apnoea in a puerperal patient with Hallermann-Streiff syndrome. (10573253)
1999
20
Chromosomal and clinical features in an infant with Hallermann-Streiff syndrome. (9301367)
1997
21
Lethal syndrome of slender bones, intrauterine fractures, characteristics facial appearance, and cataracts, resembling Hallermann-Streiff syndrome in two sibs. (8585575)
1995
22
Hallermann-Streiff syndrome in one of dizygotic twins. (8116678)
1994
23
Hallermann-Streiff syndrome: airway problems during anaesthesia. (9136243)
1994
24
Congenital heart defect in a patient with the Hallermann-Streiff syndrome. (7864053)
1994
25
Hallermann-Streiff syndrome with Coats disease. (8014786)
1994
26
MCA/MR syndrome with features of Hallermann-Streiff syndrome and 4q deficiency/14q duplication. (8275573)
1993
27
Successful pregnancy in a patient with Hallermann-Streiff syndrome. (2014833)
1991
28
Anesthetic management of a patient with Hallermann-Streiff syndrome. (15278656)
1991
29
Hallermann-Streiff syndrome: a review. (1776643)
1991
30
Respiratory obstruction and cor pulmonale in the Hallermann-Streiff syndrome. (1776647)
1991
31
The Hallermann-Streiff syndrome. (1840999)
1991
32
Hallermann-Streiff syndrome: clinical and psychological findings in children. Nosologic overlap with oculodentodigital dysplasia? (1663704)
1991
33
Tracheomalacia in Hallermann-Streiff syndrome. (1776648)
1991
34
Nasal continuous positive airway pressure (CPAP) therapy for obstructive sleep apnea in Hallermann-Streiff syndrome. (2406080)
1990
35
Extensive wormian bones in a patient with the Hallermann-Streiff syndrome. (2299139)
1990
36
Evaluation and surgical correction of the facial skeletal deformity in Hallermann-Streiff syndrome. (3125273)
1987
37
Hallermann Streiff syndrome. (3679511)
1987
38
Hallermann-Streiff syndrome and its oral implications. (3455956)
1986
39
Airway management in Hallermann-Streiff syndrome. (6534195)
1984
40
Surgical correction of the dentofacial abnormality in Hallermann-Streiff syndrome. (7042940)
1982
41
Mandibulo-oculo-facial dyscephaly (Hallermann-Streiff syndrome) in a boy resulted from a consanguineous marriage. (7291945)
1981
42
Bilateral dislocation of the hip in Hallermann-Streiff syndrome. A case report. (1184628)
1975
43
Oral manifestations of oculomandibulodyscephaly with hypotrichosis (Hallermann-Streiff syndrome). (5277371)
1971
44
Hallermann-Streiff syndrome. (Dyscephalia mandibulo-oculo-facialis). (5154844)
1971
45
The Hallermann-Streiff syndrome. (5559232)
1971
46
Hallermann-Streiff syndrome. (5457544)
1970
47
Glaucoma in the Hallermann-Streiff syndrome. (5448132)
1970
48
Craniofacial and oral manifestations in oculomandibulodyscephaly (Hallermann-Streiff syndrome). (5272043)
1970
49
Dyscephalia mandibulo-oculo-facialis. Hallermann-Streiff syndrome. A case report. (5587180)
1967
50
Roentgen differentiation of the oculodentodigital syndrome and the Hallermann-Streiff syndrome in infancy. (4955061)
1966

Variations for Hallermann-Streiff Syndrome

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Expression for genes affiliated with Hallermann-Streiff Syndrome

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hallermann-Streiff Syndrome

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

Pathways for genes affiliated with Hallermann-Streiff Syndrome

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Sources:
50PathCards, 30KEGG, 38NCBI BioSystems Database, 55Reactome
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Compounds for genes affiliated with Hallermann-Streiff Syndrome

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Sources:
45Novoseek, 24HMDB, 61Tocris Bioscience, 11DrugBank, 51PharmGKB, 29IUPHAR, 3BitterDB
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Compounds related to Hallermann-Streiff Syndrome according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1lycopene45 2410.8IGF1, GJA1
2chelerythrine459.7IGF1, GJA1
3prostaglandin f2alpha459.7IGF1, GJA1
4triiodothyronine459.7GJA1, IGF1
5progestin459.7IGF1, GJA1
61,25 dihydroxy vitamin d3459.7GJA1, IGF1
7acth459.7IGF1, GJA1
8calcitriol45 61 24 1112.6GJA1, IGF1
9etoposide45 51 61 1112.6IGF1, GJA1
10ribonucleic acid459.6GJA1, IGF1
11sb 20358045 6110.5IGF1, GJA1
12tamoxifen45 51 29 1112.5IGF1, GJA1
13scrambled 10panx619.5GJC2, GJA1
1410panx619.5GJA1, GJC2
15gap 27619.5GJC2, GJA1
16carbenoxolone disodium619.5GJC2, GJA1
17octanol29 2410.5GJC2, GJA1
18carbenoxolone45 29 1111.5GJA1, GJC2
19ca2+299.4GJC2, GJA1
20pd 98,059459.4GJA1, IGF1
21genistein45 29 61 3 24 1114.4IGF1, GJA1
22flufenamic acid29 45 3 1112.4GJC2, GJA1
23ly294002459.3GJA1, IGF1
24estradiol45 24 1111.1IGF1, GJA1

GO Terms for genes affiliated with Hallermann-Streiff Syndrome

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16Gene Ontology
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Cellular components related to Hallermann-Streiff Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1connexon complexGO:0059229.1GJA1, GJC2

Biological processes related to Hallermann-Streiff Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell-cell signalingGO:0072679.1GJA1, GJC2

Molecular functions related to Hallermann-Streiff Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:0052439.1GJA1, GJC2

Products for genes affiliated with Hallermann-Streiff Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hallermann-Streiff Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet