Surfactant metabolism dysfunction

Surfactant metabolism dysfunction: Surfactant metabolism dysfunction is a condition where pulmonary surfactant is insufficient for adequate respiration.

Types include:

Type OMIM Gene Locus

SMDP1 265120 SFTPB 2p12

SMDP2 610913 SPTPC 8p21

SMDP3 610921 ABCA3 16p13

SMDP4 300770 CSF2RA Xp

v · d · eGenetic disorder, membrane: ABC-transporter disorders

ABCA
ABCA1 (Tangier disease) · ABCA3 (Surfactant metabolism dysfunction 3) · ABCA4 (Stargardt disease 1, Retinitis pigmentosa 19) · ABCA12 (Harlequin-type ichthyosis, Lamellar ichthyosis 2)

ABCB
ABCB4 (Progressive familial intrahepatic cholestasis 3) · ABCB7 (ASAT) · ABCB11 (Progressive familial intrahepatic cholestasis 2)

ABCC
ABCC2 (Dubin–Johnson syndrome) · ABCC6 (Pseudoxanthoma elasticum) · ABCC7 (Cystic fibrosis) · ABCC8 (HHF1, TNDM2) · ABCC9 (Dilated cardiomyopathy 1O)

ABCD
ABCD1 (Adrenoleukodystrophy, Adrenomyeloneuropathy)

ABCG
ABCG5 (Sitosterolemia) · ABCG8 (Gallbladder disease 4, Sitosterolemia)

see also ABC transporters
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk

v · d · eGenetic disorder, membrane: cell surface receptor deficiencies

G protein-coupled receptor
(including hormone)

Class A

TSHR (Congenital hypothyroidism 1) · LHCGR (Male-limited precocious puberty) · FSHR (XX gonadal dysgenesis) · EDNRB (ABCD syndrome, Waardenburg syndrome 4a, Hirschsprung's disease 2) · AVPR2 (Nephrogenic diabetes insipidus 1) · PTGER2 (Aspirin-induced asthma)

Class B

PTH1R (Jansen's metaphyseal chondrodysplasia)

Class C

CASR (Familial hypocalciuric hypercalcemia)

Class F

FZD4 (Familial exudative vitreoretinopathy 1)

Enzyme-linked receptor
(including
growth factor)

RTK

ROR2 (Robinow syndrome) · FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome) · FGFR2 (Apert syndrome, Antley-Bixler syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson-Weiss syndrome) · FGFR3 (Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome) · INSR (Donohue syndrome · Rabson–Mendenhall syndrome) · NTRK1 (Congenital insensitivity to pain with anhidrosis) · KIT (KIT Piebaldism, Gastrointestinal stromal tumor)

STPK

AMHR2 (Persistent Mullerian duct syndrome II)
TGF beta receptors: Endoglin/Alk-1/SMAD4 (Hereditary hemorrhagic telangiectasia) · TGFBR1/TGFBR2 (Loeys-Dietz syndrome)

GC

GUCY2D (Leber's congenital amaurosis 1)

JAK-STAT

Type I cytokine receptor: GH (Laron syndrome) · CSF2RA (Surfactant metabolism dysfunction 4)
MPL (Congenital amegakaryocytic thrombocytopenia)

TNF receptor
TNFRSF1A (TNF receptor associated periodic syndrome) · TNFRSF13B (Selective immunoglobulin A deficiency 2) · TNFRSF5 (Hyper-IgM syndrome type 3) · TNFRSF13C (CVID4) · TNFRSF13B (CVID2) · TNFRSF6 (Autoimmune lymphoproliferative syndrome 1A)

Lipid receptor

LRP: LRP2 (Donnai-Barrow syndrome) · LRP4 (Cenani Lenz syndactylism) · LRP5 (Worth syndrome, Familial exudative vitreoretinopathy 4, Osteopetrosis 1)
LDLR (LDLR Familial hypercholesterolemia)

Other/ungrouped

Immunoglobulin superfamily: AGM3, 6

Integrin: LAD1 · Glanzmann's thrombasthenia · Junctional epidermolysis bullosa with pyloric atresia
EDAR (EDAR Hypohidrotic ectodermal dysplasia) · PTCH1 (Nevoid basal cell carcinoma syndrome) · BMPR1A (BMPR1A Juvenile polyposis syndrome) · IL2RG (X-linked severe combined immunodeficiency)

see also cell surface receptors
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk

v · Cell membrane protein disorders (other than Cell surface receptor, enzymes, and cytoskeleton)

Arrestin
Oguchi disease 1

Myelin
Pelizaeus–Merzbacher disease · Dejerine-Sottas disease · Charcot–Marie–Tooth disease 1B, 2J

Pulmonary surfactant
Surfactant metabolism dysfunction 1, 2

Cell adhesion molecule

IgSF CAM: OFC7

Cadherin: DSG1 (Striate palmoplantar keratoderma 1) · DSG2 (Arrhythmogenic right ventricular dysplasia 10) · DSG4 (LAH1) · DSC2 (Arrhythmogenic right ventricular dysplasia 11)
Integrin: see cell surface receptor deficiencies

Tetraspanin
TSPAN7 (X-Linked mental retardation 58) · TSPAN12 (Familial exudative vitreoretinopathy 5)

Other
KIND1 (Kindler syndrome) · HFE (HFE hereditary hemochromatosis) · DYSF (Distal muscular dystrophy, Limb-girdle muscular dystrophy 2B)

see also other cell membrane proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk

Categories:
Lung disorders
Disease stubs

Type	OMIM	Gene	Locus
SMDP1	265120	SFTPB	2p12
SMDP2	610913	SPTPC	8p21
SMDP3	610921	ABCA3	16p13
SMDP4	300770	CSF2RA	Xp

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Adrenoleukodystrophy — Classification and external resources T2 weighted axial scan at the level of the caudate heads demonstrates marked loss of posterior white matter, with reduced volume and increased signal intensity. The anterior white matter is spared. Features… … Wikipedia
Familial hypercholesterolemia — Classification and external resources Xanthelasma palpebrarum, yellowish patches consisting of cholesterol deposits above the eyelids. These are more common in people with FH. ICD … Wikipedia
Arrhythmogenic right ventricular dysplasia — Classification and external resources Photomicrograph of an ARVC heart. ICD 10 I … Wikipedia
Charcot–Marie–Tooth disease — Charcot Marie Tooth disease Classification and external resources The foot of a person with Charcot Marie Tooth. The lack of muscle, a high arch, and claw toes are signs of the genetic disease. ICD 10 … Wikipedia
Cleft lip and palate — For other uses, see Cleft. Cleft lip and palate Classification and external resources … Wikipedia
Tangier disease — Classification and external resources ICD 10 E78.6 ICD 9 272.5 … Wikipedia
Genetic disorder — For a non technical introduction to the topic, see Introduction to genetics. Genetic disorder Classification and external resources MeSH D030342 A genetic disorder is an illness caused by abnormalities in genes or … Wikipedia
Hypohidrotic ectodermal dysplasia — Classification and external resources ICD 10 Q82.4 ICD 9 757.31 … Wikipedia
Jansen's metaphyseal chondrodysplasia — Classification and external resources ICD 9 756.9 OMIM 156400 DiseasesDB … Wikipedia
Nephrogenic diabetes insipidus — Not to be confused with Neurogenic diabetes insipidus. Nephrogenic diabetes insipidus Classification and external resources ICD 10 N25.1 ICD 9 … Wikipedia

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