MCID: FLT006
MIFTS: 43

Floating-Harbor Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Bone diseases, Smell/Taste diseases

Aliases & Classifications for Floating-Harbor Syndrome

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Sources:
49OMIM, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Floating-Harbor Syndrome:

Name: Floating-Harbor Syndrome 49 11 21 45 22 23 51 67 24 65
Pelletier-Leisti Syndrome 45 23
Flhs 23 67
Fhs 45 23
 
Short Stature with Delayed Bone Age, Expressive Language Delay, a Triangular Face with a Prominent Nose and Deep-Set Eyes 45
Leisti-Hollander-Rimoin Syndrome 23
Fetal Hydantoin Syndrome 65

Characteristics:

Orphanet epidemiological data:

51
floating-harbor syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

61
floating-harbor syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 136140
Orphanet51 2044
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 C537062
UMLS via Orphanet66 C0729582
MedGen34 C0729582
MeSH36 D000015
UMLS65 C0729582, C0265372

Summaries for Floating-Harbor Syndrome

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NIH Rare Diseases:45 Floating-harbor syndrome (fhs) is named after the two hospitals where the first cases were reported in the medical literature: the boston floating hospital and harbor general hospital in california. the first cases were identified during the 1970's and there is much about the disorder that is not fully understood. signs and symptoms of floating harbor syndrome can vary but may include the following: short stature, skeletal abnormalities, delayed bone age, characteristic facial features, speech and language deficits, and mild to moderate intellectual disability. behavioral difficulties that are present in many children tend to improve with age. fhs is caused by mutations or changes in the srcap gene. the mutation can be inherited from a parent or can be the result of a new mutation in the affected individual. early intervention programs and special education to address developmental disabilities and communication issues may be indicated. last updated: 4/29/2016

MalaCards based summary: Floating-Harbor Syndrome, also known as pelletier-leisti syndrome, is related to hyperaldosteronism, familial, type iii and hypercholesterolemia, familial, and has symptoms including broad columella, abnormality of thumb phalanx and short stature. An important gene associated with Floating-Harbor Syndrome is SRCAP (Snf2-Related CREBBP Activator Protein). Affiliated tissues include bone, eye and breast.

Genetics Home Reference:23 Floating-Harbor syndrome is a disorder involving short stature, slowing of the mineralization of the bones (delayed bone age), delayed speech development, and characteristic facial features. The condition is named for the hospitals where it was first described, the Boston Floating Hospital and Harbor General Hospital in Torrance, California.

OMIM:49 Floating-Harbor syndrome is a rare genetic disorder characterized by proportionate short stature, delayed bone age,... (136140) more...

UniProtKB/Swiss-Prot:67 Floating-Harbor syndrome: A rare genetic disorder characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips.

Wikipedia:68 Floating–Harbor syndrome, also known as Pelletier–Leisti syndrome, is a rare disease with fewer than... more...

GeneReviews summary for NBK114458

Related Diseases for Floating-Harbor Syndrome

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Graphical network of the top 20 diseases related to Floating-Harbor Syndrome:



Diseases related to floating-harbor syndrome

Symptoms for Floating-Harbor Syndrome

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Symptoms by clinical synopsis from OMIM:

136140

Clinical features from OMIM:

136140

Symptoms:

 51 (show all 43)
  • long/thick/curved lashes/trichomegaly/polytrichia
  • long/large/bulbous nose
  • broad nasal root
  • thick columella
  • macrostomia/big mouth
  • thin/retracted lips
  • short philtrum
  • low set ears/posteriorly rotated ears
  • short neck
  • broad/bifid thumb
  • abnormal cry/voice/phonation disorder/nasal speech
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • delayed bone age
  • restricted joint mobility/joint stiffness/ankylosis
  • short stature/dwarfism/nanism
  • triangular face
  • deepset eyes/enophthalmos
  • thin/hypoplastic ala nasi
  • immobile soft palate/soft palate anomaly
  • clavicle absent/abnormal
  • short hand/brachydactyly
  • camptodactyly of some fingers
  • clinodactyly of fifth finger
  • hirsutism/hypertrichosis/increased body hair
  • malabsorption/chronic diarrhea/steatorrhea
  • constipation
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • hyperextensible joints/articular hyperlaxity
  • joint dislocation/subluxation
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • intrauterine growth retardation
  • trigonocephaly
  • strabismus/squint
  • telecanthus/canthal dystopy
  • thin/hypoplastic/hyperconvex fingernails
  • congenital cardiac anomaly/malformation/cardiopathy
  • urethral anomalies/stenosis/posterior urethral valves/megalocystis
  • micropenis/small penis/agenesis
  • motor deficit/trouble
  • hyperactivity/attention deficit
  • autosomal dominant inheritance
  • autosomal recessive inheritance

HPO human phenotypes related to Floating-Harbor Syndrome:

(show all 72)
id Description Frequency HPO Source Accession
1 broad columella hallmark (90%) HP:0010761
2 abnormality of thumb phalanx hallmark (90%) HP:0009602
3 short stature hallmark (90%) HP:0004322
4 delayed skeletal maturation hallmark (90%) HP:0002750
5 neurological speech impairment hallmark (90%) HP:0002167
6 abnormality of the voice hallmark (90%) HP:0001608
7 limitation of joint mobility hallmark (90%) HP:0001376
8 abnormality of the eyelashes hallmark (90%) HP:0000499
9 short neck hallmark (90%) HP:0000470
10 wide nasal bridge hallmark (90%) HP:0000431
11 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
12 short philtrum hallmark (90%) HP:0000322
13 thin vermilion border hallmark (90%) HP:0000233
14 wide mouth hallmark (90%) HP:0000154
15 abnormality of the soft palate typical (50%) HP:0100736
16 cognitive impairment typical (50%) HP:0100543
17 camptodactyly of finger typical (50%) HP:0100490
18 abnormality of immune system physiology typical (50%) HP:0010978
19 clinodactyly of the 5th finger typical (50%) HP:0004209
20 malabsorption typical (50%) HP:0002024
21 constipation typical (50%) HP:0002019
22 intrauterine growth retardation typical (50%) HP:0001511
23 joint hypermobility typical (50%) HP:0001382
24 joint dislocation typical (50%) HP:0001373
25 brachydactyly syndrome typical (50%) HP:0001156
26 hypertrichosis typical (50%) HP:0000998
27 abnormality of the clavicle typical (50%) HP:0000889
28 deeply set eye typical (50%) HP:0000490
29 underdeveloped nasal alae typical (50%) HP:0000430
30 triangular face typical (50%) HP:0000325
31 hypoplasia of penis occasional (7.5%) HP:0008736
32 attention deficit hyperactivity disorder occasional (7.5%) HP:0007018
33 abnormality of the fingernails occasional (7.5%) HP:0001231
34 abnormality of the urethra occasional (7.5%) HP:0000795
35 telecanthus occasional (7.5%) HP:0000506
36 strabismus occasional (7.5%) HP:0000486
37 trigonocephaly occasional (7.5%) HP:0000243
38 varicocele rare (5%) HP:0012871
39 mesocardia rare (5%) HP:0011599
40 congenital posterior urethral valve rare (5%) HP:0010957
41 persistent left superior vena cava rare (5%) HP:0005301
42 coarctation of aorta rare (5%) HP:0001680
43 atria septal defect rare (5%) HP:0001631
44 umbilical hernia rare (5%) HP:0001537
45 hypermetropia rare (5%) HP:0000540
46 strabismus rare (5%) HP:0000486
47 conductive hearing impairment rare (5%) HP:0000405
48 recurrent otitis media rare (5%) HP:0000403
49 hydronephrosis rare (5%) HP:0000126
50 nephrocalcinosis rare (5%) HP:0000121
51 hypospadias rare (5%) HP:0000047
52 cryptorchidism rare (5%) HP:0000028
53 inguinal hernia rare (5%) HP:0000023
54 cone-shaped epiphyses of the phalanges of the hand HP:0010230
55 short stature HP:0004322
56 clinodactyly of the 5th finger HP:0004209
57 delayed skeletal maturation HP:0002750
58 downturned corners of mouth HP:0002714
59 celiac disease HP:0002608
60 expressive language delay HP:0002474
61 low posterior hairline HP:0002162
62 joint laxity HP:0001388
63 hirsutism HP:0001007
64 long eyelashes HP:0000527
65 deeply set eye HP:0000490
66 short neck HP:0000470
67 prominent nose HP:0000448
68 posteriorly rotated ears HP:0000358
69 triangular face HP:0000325
70 smooth philtrum HP:0000319
71 thin vermilion border HP:0000233
72 wide mouth HP:0000154

Drugs & Therapeutics for Floating-Harbor Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Floating-Harbor Syndrome

Genetic Tests for Floating-Harbor Syndrome

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Genetic tests related to Floating-Harbor Syndrome:

id Genetic test Affiliating Genes
1 Floating-Harbor Syndrome22 SRCAP

Anatomical Context for Floating-Harbor Syndrome

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MalaCards organs/tissues related to Floating-Harbor Syndrome:

33
Bone, Eye, Breast, Brain, Monocytes, T cells, Ovary

Animal Models for Floating-Harbor Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Floating-Harbor Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Floating-Harbor Syndrome

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Articles related to Floating-Harbor Syndrome:

(show all 49)
idTitleAuthorsYear
1
Antilymphocyte Globulin for Chronic Graft-versus-Host Disease. (27168441)
2016
2
Laryngeal tuberculosis: A public health concern. (26535835)
2015
3
Prognostic value of erythrocyte sedimentation rate and C-reactive protein in the blood of patients with glioma. (24403485)
2014
4
A 65 bp deletion in band 3 gene of beta-thalassemia patients in Indonesia. (24964668)
2014
5
Decreased miR-30b-5p expression by DNMT1 methylation regulation involved in gastric cancer metastasis. (24913034)
2014
6
Involvement of hydrogen sulfide and homocysteine transsulfuration pathway in the progression of kidney fibrosis after ureteral obstruction. (23846016)
2013
7
Blastomycosis presenting as isolated otitis and otomastoiditis. (23558325)
2013
8
SEOM clinical guidelines for the treatment of osteosarcoma in adults-2013. (23907290)
2013
9
Altered lacunar and vascular porosity in osteogenesis imperfecta mouse bone as revealed by synchrotron tomography contributes to bone fragility. (24373921)
2013
10
Forearm compartment syndrome owing to being stuck in the birth canal: a case report. (23164029)
2012
11
The appearance of pili annulati following alopecia areata. (22530334)
2012
12
Clinical efficacies of treating refractory insomnia patients with estazolam plus alternating current magnetic field. (22932202)
2012
13
Cervical spondylitis due to Phaeoacremonium venezuelense in an immunocompetent patient. A first case report. (23518025)
2012
14
Breast Hemangioma: MR Appearance with Histopathological Correlation. (23029636)
2012
15
Cancer antigen 125 level after a bilateral salpingo-oophorectomy: what is the contribution of the ovary to the cancer antigen 125 level? (20861755)
2011
16
Neurotrophins modulate the expression of chemokine receptors in the brain. (21165786)
2011
17
Newcastle disease: a review of field recognition and current methods of laboratory detection. (21908305)
2011
18
Phenotype analysis in patients with early onset Parkinson's disease with and without parkin mutations. (21625934)
2011
19
The relationship of plasma adiponectin with liver fibrosis in morbid obesity. (20623203)
2010
20
The effect of point mutations in dihydrofolate reductase genes and multidrug resistance gene 1-86 on treatment of falciparum malaria in Sudan. (20212335)
2010
21
Analysis of BRAF mutation and extracellular regulated protein kinases activation in nasal mucosa melanomas]. (21223812)
2010
22
Chronic prosthetic joint infection caused by Listeria monocytogenes. (19074666)
2009
23
Corneal anomalies in newborn primary congenital glaucoma. (19645407)
2009
24
Common variant in myocilin gene is associated with high myopia in isolated population of Korcula Island, Croatia. (19260140)
2009
25
Downregulation of telomerase activity in human promyelocytic cell line using RNA interference. (19415276)
2009
26
Dynamics of circulating concentrations of gonadotropins and ovarian hormones throughout the menstrual cycle in the bonnet monkey: role of inhibin A in the regulation of follicle-stimulating hormone secretion. (19452529)
2009
27
Pathogenesis of primary sclerosing cholangitis. (18760856)
2008
28
&quot;You're one of us now&quot;: young people describe their experiences of predictive genetic testing for Huntington disease (HD) and familial adenomatous polyposis (FAP). (18189288)
2008
29
MHC class II derived recombinant T cell receptor ligands protect DBA/1LacJ mice from collagen-induced arthritis. (18178865)
2008
30
Identification of a putative human mitochondrial thymidine monophosphate kinase associated with monocytic/macrophage terminal differentiation. (18498354)
2008
31
The human HERC family of ubiquitin ligases: novel members, genomic organization, expression profiling, and evolutionary aspects. (15676274)
2005
32
Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: two novel cases. (16435220)
2005
33
Purification and characterization of human caseinomacropeptide produced by a recombinant Saccharomyces cerevisiae. (15866733)
2005
34
Cytochrome c oxidase deficient muscle fibres: substantial variation in their proportions within skeletal muscles from patients with mitochondrial myopathy. (16198107)
2005
35
Ogilvie's syndrome (acute colonic pseudo-obstruction): review of the literature and report of 6 additional cases. (15883521)
2005
36
Elevated expression of polymorphonuclear leukocyte elastase in breast cancer tissue is associated with tamoxifen failure in patients with advanced disease. (12671709)
2003
37
Sp100 is important for the stimulatory effect of homeodomain- interacting protein kinase-2 on p53-dependent gene expression. (14647468)
2003
38
Selective screening for fatty acid oxidation disorders by tandem mass spectrometry: difficulties in practical discrimination. (12828998)
2003
39
Phosphatidylinositol 4,5-bisphosphate stimulates vesicle formation from liposomes by brain cytosol. (11867768)
2002
40
Intracellular cytokine profile of CD14 positive cells in patients with hematologic malignancies and solid tumors during hematologic recovery phase after intensive chemotherapy designed to mobilize peripheral blood stem cells. (11293819)
2001
41
Testican in human blood. (11355883)
2001
42
Inhibition of growth of MX-1, MCF-7-MIII and MDA-MB-231 human breast cancer xenografts after administration of a targeted cytotoxic analog of somatostatin, AN-238. (10404076)
1999
43
Induction of apoptosis in cultured retinoblastoma cells by the protein phosphatase inhibitor, okadaic acid. (7499444)
1995
44
Induction of labor in prolonged pregnancy with propranolol as a personal evaluation]. (8084819)
1994
45
Development of a bispecific monoclonal antibody against a gallium-67 chelate and the human melanoma-associated antigen p97 for potential use in pretargeted immunoscintigraphy. (8477419)
1993
46
Neurogenic hypertension related to basilar impression. Case report. (8246061)
1993
47
Autoimmune uveitis (choroiditis) in the guinea pig sensitized with homologous uvea and its differentiation from that following sensitization with homologous retina. (4653184)
1972
48
Stones in urethral diverticulum. (13493778)
1957
49
The motor cortex in amyotonia congenita. (20993392)
1946

Variations for Floating-Harbor Syndrome

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Clinvar genetic disease variations for Floating-Harbor Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SRCAPNM_006662.2(SRCAP): c.7000C> T (p.Gln2334Ter)single nucleotide variantPathogenicrs587777656GRCh38Chr 16, 30736616: 30736616
2SRCAPNM_006662.2(SRCAP): c.7993C> T (p.Gln2665Ter)single nucleotide variantPathogenicrs587784444GRCh37Chr 16, 30749354: 30749354
3SRCAPNM_006662.2(SRCAP): c.7330C> T (p.Arg2444Ter)single nucleotide variantPathogenicrs199469464GRCh37Chr 16, 30748691: 30748691
4SRCAPNM_006662.2(SRCAP): c.7303C> T (p.Arg2435Ter)single nucleotide variantPathogenicrs199469465GRCh37Chr 16, 30748664: 30748664
5SRCAPNM_006662.2(SRCAP): c.7549delC (p.Gln2517Lysfs)deletionPathogenicrs199469466GRCh38Chr 16, 30737589: 30737589
6SRCAPNM_006662.2(SRCAP): c.7863dupG (p.Gln2622Alafs)duplicationPathogenicrs587776938GRCh38Chr 16, 30737903: 30737903

Expression for genes affiliated with Floating-Harbor Syndrome

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Search GEO for disease gene expression data for Floating-Harbor Syndrome.

Pathways for genes affiliated with Floating-Harbor Syndrome

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GO Terms for genes affiliated with Floating-Harbor Syndrome

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Biological processes related to Floating-Harbor Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1histone acetylationGO:00165739.6CREBBP, SRCAP
2viral processGO:00160329.1CREBBP, SRCAP

Sources for Floating-Harbor Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet