Feeding difficulties, and Colitis

Diseases related with Feeding difficulties and Colitis

In the following list you will find some of the most common rare diseases related to Feeding difficulties and Colitis that can help you solving undiagnosed cases.

Top matches:

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC (MAHCC ), cblD, cblF (MAHCF ), and cblJ (MAHCJ ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ), caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24. Another form of isolated MMA (OMIM ) can be caused by defect in the transcobalamin receptor (CD320 ).

METHYLCOBALAMIN DEFICIENCY TYPE CBLDV1 Is also known as methylmalonic acidemia, cblh type, formerly|functional methionine synthase deficiency type cbldv1|methylmalonic aciduria, cblh type, formerly|methylmalonic acidemia and homocystinuria, cbld type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLCOBALAMIN DEFICIENCY TYPE CBLDV1

Related symptoms:

  • Inflammation of the large intestine


SOURCES: OMIM MESH MENDELIAN

More info about INFLAMMATORY BOWEL DISEASE 13; IBD13

Other less relevant matches:

Medium match HIRSCHSPRUNG DISEASE

Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.

HIRSCHSPRUNG DISEASE Is also known as hscr|aganglionic megacolon|congenital intestinal aganglionosis|hirschsprung disease|megacolon, aganglionic|mgc

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HIRSCHSPRUNG DISEASE

Hyperphosphatasia with mental retardation syndrome-6 (HPMRS6) is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic features, seizures, and congenital cataracts. Severity is variable, and the disorder may show a range of phenotypic and biochemical abnormalities, including increased serum alkaline phosphatase levels (summary by Ilkovski et al., 2015). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6 Is also known as gpibd12|glycosylphosphatidylinositol biosynthesis defect 12

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6

Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia characterized by supraorbital hyperostosis, undermodeling of the small bones, and small and large joint contractures, as well as extraskeletal developmental abnormalities, primarily of the cardiorespiratory system and genitourinary tract. Patients with FMD2 appear to have a propensity for keloid formation (summary by Wade et al., 2016).For a discussion of genetic heterogeneity of frontometaphyseal dysplasia, see FMD1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2

D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (OMIM ), caused by mutation in the ACOX1 gene (OMIM ) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD ), Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (NALD; see {601539}) (Watkins et al., 1995).DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1 ). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Is also known as peroxisomal bifunctional enzyme deficiency|dbp deficiency|17-beta-hydroxysteroid dehydrogenase iv deficiency|pbfe deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about D-BIFUNCTIONAL PROTEIN DEFICIENCY

Esophageal adenocarcinoma (EAC) is a sub-type of esophageal carcinoma (EC; see this term) affecting the glandular cells of the lower esophagus at the junction with the stomach.

ADENOCARCINOMA OF THE ESOPHAGUS Is also known as esophageal adenocarcinoma|barrett metaplasia

Related symptoms:

  • Dysphagia
  • Obesity
  • Gastroesophageal reflux
  • Feeding difficulties in infancy
  • Cough


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ADENOCARCINOMA OF THE ESOPHAGUS

Palmoplantar keratoderma (PPK) is a complex group of hereditary syndromes that have been classified into diffuse, punctate, and focal forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994).For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (OMIM ).

PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME Is also known as howell-evans syndrome|keratosis palmaris et plantaris with esophageal cancer|palmoplantar hyperkeratosis-esophageal carcinoma syndrome|palmoplantar keratoderma with esophageal cancer|tylosis-oesophageal carcinoma syndrome|bennion-patterson syndrome|kerato

Related symptoms:

  • Neoplasm
  • Hepatomegaly
  • Dysphagia
  • Edema
  • Hernia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Top 5 symptoms//phenotypes associated to Feeding difficulties and Colitis

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Vomiting Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Feeding difficulties and Colitis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Enterocolitis Depressed nasal bridge Failure to thrive Generalized hypotonia Osteopenia Decreased muscle mass Dilatation Talipes equinovarus Strabismus Gastroesophageal reflux Nausea and vomiting Weight loss Micrognathia Neoplasm Scoliosis Hearing impairment Inflammation of the large intestine Feeding difficulties in infancy Hepatomegaly Nystagmus

Rare Symptoms - Less than 30% cases

Congestive heart failure Increased body weight Ventriculomegaly Abnormality of the pinna Cerebellar atrophy Failure to thrive in infancy Respiratory tract infection Low anterior hairline Hip contracture Upslanted palpebral fissure Sepsis Abdominal distention Thick eyebrow Behavioral abnormality Hypoventilation Epicanthus Anteverted ears Full cheeks Abnormal facial shape Bicuspid aortic valve Growth delay Cataract Flexion contracture Aspiration Delayed speech and language development Narrow forehead Clinodactyly Hip dysplasia Hyperactivity Polyhydramnios Hypertelorism Poor suck Abdominal pain Microcephaly Esophagitis Esophageal carcinoma Edema Ataxia Delayed puberty Ascites Pectus excavatum Intellectual disability, mild Polymicrogyria Hypogonadism Lethargy Short stature Obesity Dolichocephaly Abnormality of the nervous system Sensorineural hearing impairment Neonatal hypotonia Cryptorchidism Myopathy Fever Gastrointestinal hemorrhage Pain Low-set ears Muscular hypotonia Dysphagia Intrauterine growth retardation Cognitive impairment Motor delay Hypertension Apnea Hypoglycemia Myopia Photophobia Narrow mouth Prominent forehead Respiratory failure Syndactyly Recurrent respiratory infections Autism Diabetes mellitus Osteoporosis Abnormality of the dentition Micropenis Kyphosis Hyporeflexia Short nose Thin upper lip vermilion Intellectual disability, severe Lymphadenopathy Esophageal leukoplakia Postural instability Oral-pharyngeal dysphagia Palmoplantar hyperkeratosis Thickened skin Calcific stippling Epidermal acanthosis Ectodermal dysplasia Generalized cerebral atrophy/hypoplasia Palmoplantar keratoderma Poor appetite Carcinoma Hyperkeratosis Hernia Cough Esophageal ulceration Barrett esophagus Clinodactyly of the 5th toe Squamous cell carcinoma Parakeratosis Abnormal large intestine morphology Renal cortical microcysts Abnormality of esophagus physiology Cerebral hypoplasia Esophageal neoplasm Diffuse palmoplantar hyperkeratosis Abnormality of the mediastinum Clubbing of toes Chylous ascites Fetal ascites Abnormality of the mouth Plantar hyperkeratosis Esophageal stricture Chest pain Hypergranulosis Oral leukoplakia Follicular hyperkeratosis Hiatus hernia Stomach cancer Amenorrhea Attention deficit hyperactivity disorder Striae distensae Oligomenorrhea Overweight Central hypotonia Abnormality of lipid metabolism Iris hypopigmentation Hypopigmentation of hair Pulmonary embolism Impaired pain sensation Hypoplasia of the fovea Myeloid leukemia Narrow nasal bridge Polyphagia External genital hypoplasia Truncal obesity Adrenal insufficiency Skeletal muscle hypertrophy Albinism Acrocyanosis Chromosome breakage Large hands Triangular mouth Poor gross motor coordination Almond-shaped palpebral fissure Hypopnea Narrow palm Psychotic episodes Hypoplastic labia minora Central adrenal insufficiency Temperature instability Disseminated intravascular coagulation Ocular albinism Erysipelas Frontal upsweep of hair Clitoral hypoplasia Poor fine motor coordination Abdominal obesity Cor pulmonale Generalized hypopigmentation Hypothermia Glucose intolerance Emotional lability Stroke Small hand Febrile seizures Growth hormone deficiency Esotropia Hypopigmentation of the skin Sleep disturbance Tapered finger Short foot Downturned corners of mouth Bile duct proliferation Short palm Arachnodactyly Infertility Genu valgum Carious teeth Hypermetropia Pruritus Leukemia Specific learning disability Abnormality of the cardiovascular system Radial deviation of finger Hypogonadotrophic hypogonadism Hyperinsulinemia Precocious puberty Nasal speech Infantile muscular hypotonia Scrotal hypoplasia Sleep apnea Narrow palpebral fissure Spontaneous abortion Aortic valve stenosis Oligohydramnios Bradycardia Insulin resistance Clumsiness Primary amenorrhea Cutaneous photosensitivity Psychosis Type II diabetes mellitus Decreased fetal movement Cerebral dysmyelination Long philtrum Corpus callosum atrophy Total intestinal aganglionosis Deeply set eye Elevated serum creatine phosphokinase Inguinal hernia Short neck Anteverted nares Abnormality of enteric ganglion morphology Intestinal perforation Developmental regression Functional abnormality of the gastrointestinal tract Neoplasm of the thyroid gland Total colonic aganglionosis Central hypoventilation Intestinal polyposis Neoplasm of the endocrine system Heterochromia iridis Muscular hypotonia of the trunk Wide mouth Malnutrition Elevated alkaline phosphatase Shortening of all distal phalanges of the fingers Prominent nasal tip Thickened helices Chronic lung disease Large earlobe Long palpebral fissure 2-3 toe syndactyly Disproportionate short-limb short stature Congenital cataract Knee flexion contracture Elbow flexion contracture Cerebral visual impairment Abnormal lung morphology Limb undergrowth Bulbous nose Poor speech Long nose Flat occiput EEG with multifocal slow activity Aciduria Spastic ataxia Methylmalonic aciduria Increased mean corpuscular volume Megaloblastic anemia Intracranial hemorrhage Anorexia Dehydration Pallor Methylmalonic acidemia Acidosis Cerebral cortical atrophy Dystonia Respiratory distress Fatigue Gait disturbance Anemia Homocystinuria Hyperhomocystinemia Intestinal obstruction Constipation Adducted thumb Abnormal autonomic nervous system physiology Long eyelashes Aganglionic megacolon Sloping forehead Dental malocclusion Prominent nasal bridge Diarrhea Decreased methylcobalamin Ptosis Spasticity Hypomethioninemia Decreased methylmalonyl-CoA mutase activity Decreased adenosylcobalamin Decreased methionine synthase activity Megaloblastic bone marrow Echogenic fetal bowel Cleft palate Undetectable electroretinogram High forehead Hepatic steatosis Talipes Abnormality of the cerebral white matter Severe global developmental delay Abnormality of the liver Elevated hepatic transaminase Retrognathia Pneumonia Gliosis Delayed skeletal maturation Visual loss Hypospadias Hypoplasia of the corpus callosum Frontal bossing Optic atrophy Macrocephaly Renal cyst Progressive visual loss Visual impairment Aplasia/Hypoplasia of the cerebellum Aspiration pneumonia Adrenal hypoplasia Scaphocephaly Primary adrenal insufficiency Cortical dysplasia Thoracic hypoplasia Delayed cranial suture closure Hammertoe Peripheral demyelination Decreased nerve conduction velocity Progressive hearing impairment Large fontanelles Pachygyria Heterotopia Cholestasis Split hand Skeletal muscle atrophy Large joint dislocations Wide nasal bridge Hirsutism Pointed chin Bowing of the long bones Blue sclerae Webbed neck Short metacarpal Bifid uvula Broad nasal tip Pulmonic stenosis Finger clinodactyly Short philtrum Scarring Camptodactyly Conductive hearing impairment Skeletal dysplasia Patent ductus arteriosus Downslanted palpebral fissures Congenital hip dislocation Coxa valga Sclerotic vertebral endplates Dislocated radial head Subglottic stenosis Ulnar deviation of the hand Fused cervical vertebrae Neurogenic bladder Ulcerative colitis Tracheal stenosis Pierre-Robin sequence Hyperostosis Joint dislocation Stridor Patent foramen ovale Pyloric stenosis Prominent supraorbital ridges Short metatarsal Deep philtrum Abnormality of the genitourinary system Acromicria


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